(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_054027.4 in the ANKH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008273.1, covering ANKH transcript NM_054027.4.
(upstream sequence)
. . . g.5031
agagcgcttataatggagccgctgtcagcag c.-301
. . . . . . g.5091
aaccttctgccgccgccgccgccgccgccgtccctcctcttttttttcccggcagatctt c.-241
. . . . . . g.5151
tgttgtgtgggagggcagcagggatggacttgagcttgcggatcccctgctagagcagcc c.-181
. . . . . . g.5211
gcgctcggagaaggcgccgcagccgcgaggaggagccgccgccgccgcgcccgaggcccc c.-121
. . . . . . g.5271
gccgcccgcggcctctgtcggcccgcgccccgctcgccccgtcgccccgtcgcccctcgc c.-61
. . . . . . g.5331
ctccccgcagagtcccctcgcggcagcagatgtgtgtggggtcagcccacggcggggact c.-1
. . . . . . g.5391
ATGGTGAAATTCCCGGCGCTCACGCACTACTGGCCCCTGATCCGGTTCTTGGTGCCCCTG c.60
M V K F P A L T H Y W P L I R F L V P L p.20
. . . | 02 . . . g.107611
GGCATCACCAACATAGCCATCGACTTCGGGGAGCAG | GCCTTGAACCGGGGCATTGCTGCT c.120
G I T N I A I D F G E Q | A L N R G I A A p.40
. . . . . . g.107671
GTCAAGGAGGATGCAGTCGAGATGCTGGCCAGCTACGGGCTGGCGTACTCCCTCATGAAG c.180
V K E D A V E M L A S Y G L A Y S L M K p.60
. . . . . . g.107731
TTCTTCACGGGTCCCATGAGTGACTTCAAAAATGTGGGCCTGGTGTTTGTGAACAGCAAG c.240
F F T G P M S D F K N V G L V F V N S K p.80
. . . . . . g.107791
AGAGACAGGACCAAAGCCGTCCTGTGTATGGTGGTGGCAGGGGCCATCGCTGCCGTCTTT c.300
R D R T K A V L C M V V A G A I A A V F p.100
. | 03 . . . . . g.118227
CACACACTGATAG | CTTATAGTGATTTAGGATACTACATTATCAATAAACTGCACCATGTG c.360
H T L I A | Y S D L G Y Y I I N K L H H V p.120
. . . . . . g.118287
GACGAGTCGGTGGGGAGCAAGACGAGAAGGGCCTTCCTGTACCTCGCCGCCTTTCCTTTC c.420
D E S V G S K T R R A F L Y L A A F P F p.140
. | 04 . . . . . g.120882
ATGGACGCAATG | GCATGGACCCATGCTGGCATTCTCTTAAAACACAAATACAGTTTCCTG c.480
M D A M | A W T H A G I L L K H K Y S F L p.160
. . . | 05 . . . g.125563
GTGGGATGTGCCTCAATCTCAGATGTCATAGCTCAG | GTTGTTTTTGTAGCCATTTTGCTT c.540
V G C A S I S D V I A Q | V V F V A I L L p.180
. . . . . . g.125623
CACAGTCACCTGGAATGCCGGGAGCCCCTGCTCATCCCGATCCTCTCCTTGTACATGGGC c.600
H S H L E C R E P L L I P I L S L Y M G p.200
. . . . . . g.125683
GCACTTGTGCGCTGCACCACCCTGTGCCTGGGCTACTACAAGAACATTCACGACATCATC c.660
A L V R C T T L C L G Y Y K N I H D I I p.220
. . | 06. . . . g.127505
CCTGACAGAAGTGGCCCGGAGCTGGGG | GGAGATGCAACAATAAGAAAGATGCTGAGCTTC c.720
P D R S G P E L G | G D A T I R K M L S F p.240
. . . . . . g.127565
TGGTGGCCTTTGGCTCTAATTCTGGCCACACAGAGAATCAGTCGGCCTATTGTCAACCTC c.780
W W P L A L I L A T Q R I S R P I V N L p.260
. . . . | 07 . . g.130834
TTTGTTTCCCGGGACCTTGGTGGCAGTTCTGCAGCCACAGAG | GCAGTGGCGATTTTGACA c.840
F V S R D L G G S S A A T E | A V A I L T p.280
. . . . . . g.130894
GCCACATACCCTGTGGGTCACATGCCATACGGCTGGTTGACGGAAATCCGTGCTGTGTAT c.900
A T Y P V G H M P Y G W L T E I R A V Y p.300
. | 08 . . . . . g.134901
CCTGCTTTCGACAAG | AATAACCCCAGCAACAAACTGGTGAGCACGAGCAACACAGTCACG c.960
P A F D K | N N P S N K L V S T S N T V T p.320
. . . . . | 09 . g.159952
GCAGCCCACATCAAGAAGTTCACCTTCGTCTGCATGGCTCTGTCACTCACG | CTCTGTTTC c.1020
A A H I K K F T F V C M A L S L T | L C F p.340
. . . . . . g.160012
GTGATGTTTTGGACACCCAACGTGTCTGAGAAAATCTTGATAGACATCATCGGAGTGGAC c.1080
V M F W T P N V S E K I L I D I I G V D p.360
. . . . . . g.160072
TTTGCCTTTGCAGAACTCTGTGTTGTTCCTTTGCGGATCTTCTCCTTCTTCCCAGTTCCA c.1140
F A F A E L C V V P L R I F S F F P V P p.380
| 10 . . . . . . g.163170
G | TCACAGTGAGGGCGCATCTCACCGGGTGGCTGATGACACTGAAGAAAACCTTCGTCCTT c.1200
V | T V R A H L T G W L M T L K K T F V L p.400
. . . . . . g.163230
GCCCCCAGCTCTGTGCTGCGGATCATCGTCCTCATCGCCAGCCTCGTGGTCCTACCCTAC c.1260
A P S S V L R I I V L I A S L V V L P Y p.420
| 11 . . . . . . g.163860
CTGGG | GGTGCACGGTGCGACCCTGGGCGTGGGCTCCCTCCTGGCGGGCTTTGTGGGAGAA c.1320
L G | V H G A T L G V G S L L A G F V G E p.440
. . . . | 12 . . g.165483
TCCACCATGGTCGCCATCGCTGCGTGCTATGTCTACCGGAAGCAG | AAAAAGAAGATGGAG c.1380
S T M V A I A A C Y V Y R K Q | K K K M E p.460
. . . . . . g.165543
AATGAGTCGGCCACGGAGGGGGAAGACTCTGCCATGACAGACATGCCTCCGACAGAGGAG c.1440
N E S A T E G E D S A M T D M P P T E E p.480
. . . g.165582
GTGACAGACATCGTGGAAATGAGAGAGGAGAATGAATAA c.1479
V T D I V E M R E E N E X p.492
. . . . . . g.165642
ggcacgggacgccatgggcactgcagggacagtcagtcaggatgacacttcggcatcatc c.*60
. . . . . . g.165702
tcttccctctcccatcgtattttgttcccttttttttgttttgttttggtaatgaaagag c.*120
. . . . . . g.165762
gccttgatttaaaggtttcgtgtcaattctctagcatactgggtatgctcacactgacgg c.*180
. . . . . . g.165822
ggggacctagtgaatggtctttactgttgctatgtaaaaacaaacgaaacaactgacttc c.*240
. . . . . . g.165882
atacccctgcctcacgaaaacccaaaagacacagctgcctcacggttgacgttgtgtcct c.*300
. . . . . . g.165942
cctcccctggacaatctcctcttggaaccaaaggactgcagctgtgccatcgcgcctcgg c.*360
. . . . . . g.166002
tcaccctgcacagcaggccacagactctcctgtcccccttcatcgctcttaagaatcaac c.*420
. . . . . . g.166062
aggttaaaactcggcttcctttgatttgcttcccagtcacatggccgtacaaagagatgg c.*480
. . . . . . g.166122
agccccggtggcctcttaaatttcccttccgccacggagttcgaaaccatctactccaca c.*540
. . . . . . g.166182
catgcaggaggcgggtggcacgctgcagcccggagtccccgttcacactgaggaacggag c.*600
. . . . . . g.166242
acctgtgaccacagcaggctgacagatggacagaatctcccgtagaaaggtttggtttga c.*660
. . . . . . g.166302
aatgccccgggggcagcaaactgacatggttgaatgatagcatttcactctgcgttctcc c.*720
. . . . . . g.166362
tagatctgagcaagctgtcagttctcacccccaccgtgtatatacatgagctaacttttt c.*780
. . . . . . g.166422
taaattgtcacaaaagcgcatctccagattccagaccctgccgcatgacttttcctgaag c.*840
. . . . . . g.166482
gcttgcttttccctcgcctttcctgaaggtcgcattagagcgagtcacatggagcatcct c.*900
. . . . . . g.166542
aactttgcattttagtttttacagtgaactgaagctttaagtctcatccagcattctaat c.*960
. . . . . . g.166602
gccaggttgctgtagggtaacttttgaagtagatatattacctggttctgctatccttag c.*1020
. . . . . . g.166662
tcataactctgcggtacaggtaattgagaatgtactacggtacttccctcccacaccata c.*1080
. . . . . . g.166722
cgataaagcaagacattttataacgataccagagtcactatgtggtcctccctgaaataa c.*1140
. . . . . . g.166782
cgcattcgaaatccatgcagtgcagtatatttttctaagttttggaaagcaggttttttc c.*1200
. . . . . . g.166842
ctttaaaaaaattatagacacggttcactaaattgatttagtcagaattcctagactgaa c.*1260
. . . . . . g.166902
agaacctaaaaaaaaaaatattttaaagatataaatatatgctgtatatgttatgtaatt c.*1320
. . . . . . g.166962
tattttaggctataatacatttcctattttcgcattttcaataaaatgtctctaatacaa c.*1380
. . . . . . g.167022
tacggtgattgcttgtgtgctcaacatacctgcagttgaaacgtattgtatcaatgaaca c.*1440
. . . . . . g.167082
ttgtaccttattggcagcagttttataaagtccgtcatttgcatttgaatgtaaggctca c.*1500
. . . . . . g.167142
gtaaatgacagaactatttttcattatgggtaactggggaataaatgggtcactggagta c.*1560
. . . . . . g.167202
ggaatagaagtgcaagctggaaaggcaaaaatgagaaagaaaaaggcaggccctttgtgt c.*1620
. . . . . . g.167262
ctaccgttttcagtgctgtgtgatcatattgttcctcacagcaaaaaagaatgcaagggc c.*1680
. . . . . . g.167322
ataatgttagctgtgaacatgccagggttgcattcacattcctgggtacccagtgctgat c.*1740
. . . . . . g.167382
ggggtgtgcccacgtggggacatgtccttggcgtgcttcctcagagtggcttttcctcca c.*1800
. . . . . . g.167442
ttaatacatatatgagtactgaaaaattaagttgcatagctgctttgcagtggtttcaga c.*1860
. . . . . . g.167502
ggcagatctgagaagattaaaaaaaaatctcaatgtatcagctttttttaaaggacatta c.*1920
. . . . . . g.167562
ctagaaaattaaacagtattttttaacatgtgtgactttcatgcttctggggttggagct c.*1980
. . . . . . g.167622
taaagatccaaactgagaaagcaggccgggcatggtggctcatgcctgtaatcccaacac c.*2040
. . . . . . g.167682
tttgggaggccaaggagggtggatcacttaaggtcaggagtttgagaccagcctggccaa c.*2100
. . . . . . g.167742
catggcaaaaccctgtctctactaaaaacataaaaattagctgggggtggtagcacatac c.*2160
. . . . . . g.167802
ctgtaatcccagctactcaggaggctgaggcaggagaatttgcttgatcctgggaggcag c.*2220
. . . . . . g.167862
aggttgtagtgagccgagatcgcgccatcgcactccagcctgggtgacaagagcaaaact c.*2280
. . . . . . g.167922
ccatctcaaaaaaaaaaaaaatcctttccctctaaatccaggaaggatcagcaagggcct c.*2340
. . . . . . g.167982
cctcattatgagatgaggaaatacaactccagagattccttcagtgatcaagatcagtgg c.*2400
. . . . . . g.168042
gccataatatttggttagagtttctgagaacacaggaagcaatgccacactcaggccacc c.*2460
. . . . . . g.168102
acaatggagctgatttggcaggacttgttcaaacctttcaccttaaagcacgtgatcctt c.*2520
. . . . . . g.168162
cttcgtacattttcttcacttgggctgcttaagtcacagcctaacaactttgaggcaaaa c.*2580
. . . . . . g.168222
ctgagaactggcatattctcctgcgtttcttctaatcgagtcccatcatccagctagaca c.*2640
. . . . . . g.168282
tgagagatcaaaccagggagggtgacctttctccttcccacttttcagagtcattggggc c.*2700
. . . . . . g.168342
aactttttgacttttgtgaccaaagaaacattcccccaaaacatttatttttcattgtag c.*2760
. . . . . . g.168402
ggcattcagctgacagctgcattttagaaagttaccatgcctgtgagattctcatgtcaa c.*2820
. . . . . . g.168462
agaccagggaaagaccaggtgtgactttctccaaaactgagtgattgcttgtggatgaat c.*2880
. . . . . . g.168522
acaatctaaaaatacaaggccatgaagtagtttttcatttagatgctgagaaataatagg c.*2940
. . . . . . g.168582
tttgggcagctcaaagcataggaaatagtaagggttttctagagctcctcctttggtggc c.*3000
. . . . . . g.168642
ctgtttgagtagcacaagggacgtcatcctaaatgtgcagttgccatttgttctgtagtg c.*3060
. . . . . . g.168702
acttacagggatctcagtggcaaagggcgtcagtgagacaacaactgagcaaaaagaact c.*3120
. . . . . . g.168762
agacgaggcttgcgcttggaaagtcacggtaggattggacctgccggccacatggctcag c.*3180
. . . . . . g.168822
ggagtattgacggatttgcacattggcaggaaactctcccgtttgggattctttaaatgg c.*3240
. . . . . . g.168882
ggcacagaaggccacttgtttgcatttctgggtaaaaaacagtcatcccccatgactgcc c.*3300
. . . . . . g.168942
tgcatcgggtttgtcttgtgccaaagttactcttcctttgtttttactttgccttgattt c.*3360
. . . . . . g.169002
ttagcattagctggtagtttggcttggaaatgtcctggatagccgattccctaagaaact c.*3420
. . . . . . g.169062
gaaacatttaatattggcttaggatgtatcagatggggccaaataaagcttctttacaat c.*3480
. . . . . . g.169122
agtaaaagcactttatacttcactctctgagtcttcccaataaataaccttgggaggtgc c.*3540
. . . . . . g.169182
agggggtggggggcccaggatggggaggcctgggagctcccagggtagtgacagagttgg c.*3600
. . . . . . g.169242
gctgagttctccagacgccaggatgcgtcgcagcggggccagctcaggagtgctcactcc c.*3660
. . . . . . g.169302
cagccctctggatctctctcctggttggaataatcattacatatcgtaactctcaaaatt c.*3720
. . . . . . g.169362
tattcacttatattttcagaataagaagtgtgaaatgttaacagctctctgctctcttac c.*3780
. . . . . . g.169422
ttgttccccatttggggatcttctggagggaaggggcagggggagagtaacttttctata c.*3840
. . . . . . g.169482
tccttggtttctaggaacacatcgatttgaagactcagtagctgactggttttttttttt c.*3900
. . . . . . g.169542
cccccttcaaactgaagtgcgagtgtgcgtgtgttccacaaaatagcaagtatttatagt c.*3960
. . . . . . g.169602
gttgtaattacatttccttgagaaatattttcttgtatttaaaaatctttctacttcagt c.*4020
. . . . . . g.169662
aactcccagcagaacagtgcccaggacagcatgtgccggttagtaccagctttgcaggtg c.*4080
. . . . . . g.169722
agctgacttctaaacttaggacgacgtcttcatcaatcaaactagtgcacagtccagaaa c.*4140
. . . . . . g.169782
aaggggtcctttatcttctaagttctgctcctcacctttctttggaaccaaaattgcagt c.*4200
. . . . . . g.169842
ggagtgtgaggaagagctttgaaagacgtggagtgttgagatgtctgcattgcacattca c.*4260
. . . . . . g.169902
gccggttcaaagccagcagctcctgcctgcattctgtagacatcgccctcacacacagtc c.*4320
. . . . . . g.169962
ctctgatggctctcatataaagcactcaaaccgtaggaaagcatgtttttgagcaacgtg c.*4380
. . . . . . g.170022
tctgggatactcctctgtgtggttattttgaatctctatttctgtcattgaagcagcaaa c.*4440
. . . . . . g.170082
aaacatcatgtgactcatcaactgatctaatcacacttaaaacaggatgtagagaaaaat c.*4500
. . . . . . g.170142
ctgatgagaaacgtaaaagggcctgttgcctgcccttttaaaggcaaaatgtctaaaatc c.*4560
. . . . . . g.170202
atgcaaatgttcaaaatgagagaaattgcattgtggaatcaaaataacccaaactccact c.*4620
. . . . . . g.170262
cagaaaagtcacaaatatatagtatactatctgatctcaaaagggaaaaacgagatgata c.*4680
. . . . . . g.170322
agaccttaagtttagactttattttcttctcaagagtggacattaaatctattaacttgc c.*4740
. . . . . . g.170382
aactttctgctgggaagagcatcaaaggtgggcctcctaaatcatttttgaaaaacctct c.*4800
. . . . . . g.170442
gtcaagtccaagtggttccaggagaattatagccagtatcttttaaaatatttcatttta c.*4860
. . . . . . g.170502
gtgataatgtttttctctgcttcatttgcaatcaaccaggatctctaaaagactgcataa c.*4920
. . . . . . g.170562
gatatatgcacttttataggtggctgtcagctacacatagattcagcaaattttttttat c.*4980
. . . . . . g.170622
atagtacctgtttttaagttaggctacataacttaaagtgcactttactaacaagacttg c.*5040
. . . . . . g.170682
acattagcgtctacaatatgtatatgtaaacaaaagcacacaagaactaggcaccctttc c.*5100
. . . . . . g.170742
tctctccaagagtttaagtggtttccttaggttaaagaaggggacagaccagctaaaaat c.*5160
. . . . . . g.170802
ggttgtaccactcactgtacaacctcatggaaattctcactataagatttagaggcaatg c.*5220
. . . . . . g.170862
ttccctagctataagccagggcaagaaatggcgcctctggagttggggaacattagggga c.*5280
. . . . . . g.170922
acattacaaccgggtagatgctggttccctgaagtgtggggccatgaacatgcagggacc c.*5340
. . . . . . g.170982
cacggtttgaatgaaacagctactgaaagctaagttcaaaccacccttgcgtaacaaagg c.*5400
. . . . . . g.171042
agtacagggtacacatcaacaccaatcacccagcaccccacagcgatggtcatgtcaccg c.*5460
. . . . . . g.171102
tgcagcaggtcccttaccccagggctgccacatccacaagccttgcagtggcaaatacgc c.*5520
. . . . . . g.171162
tgctccttggatttaatgagatattttggttgcttaatgatgtactgatcagggaactgt c.*5580
. . . . . . g.171222
ctaaagctagtagggccaaggagttaatcaaagggcttcgggaaagtggacaagagccac c.*5640
. . . . . . g.171282
acacgtgattctgttccatgccgacactcattcatttaagaagtgtattcaagctggagg c.*5700
. . . . . . g.171342
cttccatatcactcacgcttcttggcctcaccttgctcatctgtccaatgggaggcttga c.*5760
. . . . . . g.171402
gccattattgctaaggccccttcctgatctaacattctgtttatgatctaggatttagaa c.*5820
. . . . . . g.171462
cgtcgtatgagatcctacaatggaagaataaaatcacctcattcttcatttcagatctga c.*5880
. . . . . . g.171522
acattagcagtgatctagatttttttttttttaaacaaaattaagtgtgcttagagtcat c.*5940
. . . . . . g.171582
tcctctacatgggctgtggctgtcagcccataggtttgtcagtttcacatcaaaactgtg c.*6000
. . . . . . g.171642
ggtataaactgttgaaaccaatcacattaaaatatttagctgggcacagtggtgtgcatc c.*6060
. . . . . . g.171702
tgtagtcccagctacttgggaggctgaggcaggaggatcgcttaagcacaggagttggaa c.*6120
. . . . . . g.171762
tccagcctgagcaacagagcaaaaccccgtctctaaaatacaaataaaatatttgtgtag c.*6180
. . . . . . g.171822
tttttgattaaaattgactacagcggtcagtataaaatacatgtcgcttttaaggaagtg c.*6240
. . . . . . g.171882
ctctttatgtatctaacagatggaagtttttgcattggtaagagcatttatatatgcttt c.*6300
. . . . . . g.171942
gtttcagggtttatggatttgtattcatatattgtcaaataggtttcatactctaatttt c.*6360
. . . g.171979
actttaagtaaagcttaaacacttggcatacaactga c.*6397
(downstream sequence)
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