(used for variant description)
(last modified May 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_020119.3 in the ZC3HAV1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering ZC3HAV1 transcript NM_020119.3.
(upstream sequence)
. . g.5028
cttttagtttctcttctttctaaagaag c.-361
. . . . . . g.5088
gctcgcggagcccggctggagaacctcaccctcgccgagcctagaaccgagagggggcca c.-301
. . . . . . g.5148
ccccaggcggtcaccagcagatttgcccgcgcgttctctttctttccacccagttgccct c.-241
. . . . . . g.5208
tgcggccggctgtaaacctgccactaggacccggtcggtgagatctagcctcttgacctg c.-181
. . . . . . g.5268
agagccgagagtggatcgctgggctgggctaacggcgacggagagcgcgccctcgctgac c.-121
. . . . . . g.5328
tccgggcgcgcccagcagtagcaccgcccgcgcccgcccctggacacttgtaagtttcga c.-61
. . . . . . g.5388
tttccgatttccgcggaaccgagtcccgcgccgcggcagagccagcacagccagcgcgcc c.-1
. . . . . . g.5448
ATGGCGGACCCGGAGGTGTGCTGCTTCATCACCAAAATCCTGTGCGCCCACGGGGGCCGC c.60
M A D P E V C C F I T K I L C A H G G R p.20
. . . . . . g.5508
ATGGCCCTGGACGCGCTGCTCCAGGAGATCGCGCTGTCTGAGCCGCAGCTCTGTGAGGTG c.120
M A L D A L L Q E I A L S E P Q L C E V p.40
. . . . . . g.5568
CTGCAGGTGGCCGGGCCCGACCGCTTTGTGGTGTTGGAGACCGGCGGCGAGGCCGGGATC c.180
L Q V A G P D R F V V L E T G G E A G I p.60
. . . . . . g.5628
ACCCGATCGGTGGTGGCCACCACTCGAGCCCGGGTCTGCCGTCGCAAGTACTGCCAGAGA c.240
T R S V V A T T R A R V C R R K Y C Q R p.80
. . . . . . g.5688
CCCTGCGATAACCTGCATCTCTGCAAACTCAACTTGCTGGGCCGGTGCAACTATTCGCAG c.300
P C D N L H L C K L N L L G R C N Y S Q p.100
| 02 . . . . . g.25012
TCCGAGCG | GAATTTATGCAAATATTCTCATGAGGTTCTCTCAGAAGAGAACTTCAAAGTC c.360
S E R | N L C K Y S H E V L S E E N F K V p.120
. . . . . . g.25072
CTGAAAAATCACGAACTCTCTGGACTGAACAAAGAGGAATTAGCAGTGCTCCTCCTCCAA c.420
L K N H E L S G L N K E E L A V L L L Q p.140
. . | 03 . . . . g.30723
AGTGATCCTTTTTTTATGCCCGAG | ATATGCAAAAGTTATAAGGGAGAGGGTCGGCAGCAG c.480
S D P F F M P E | I C K S Y K G E G R Q Q p.160
. . . . . . g.30783
ATTTGTAACCAGCAGCCACCGTGTTCAAGACTCCACATCTGTGACCACTTCACCCGAGGG c.540
I C N Q Q P P C S R L H I C D H F T R G p.180
. . . . . . g.30843
AACTGTCGTTTTCCCAACTGCCTCCGGTCCCATAACCTGATGGACAGAAAGGTGCTGGCC c.600
N C R F P N C L R S H N L M D R K V L A p.200
. . . . . . g.30903
ATCATGAGGGAGCACGGGCTGAACCCCGACGTGGTCCAGAACATCCAGGACATCTGCAAC c.660
I M R E H G L N P D V V Q N I Q D I C N p.220
. . . | 04. . . g.34499
AGCAAGCACATGCAGAAGAATCCCCCAGGGCCCAGAG | CTCCTTCTTCACATCGTAGAAAC c.720
S K H M Q K N P P G P R A | P S S H R R N p.240
. . . . . . g.34559
ATGGCATATAGGGCTAGAAGCAAGAGTAGAGATCGGTTCTTTCAGGGCAGCCAAGAATTT c.780
M A Y R A R S K S R D R F F Q G S Q E F p.260
. . . . . . g.34619
CTTGCGTCTGCTTCAGCGTCTGCTGAGAGGTCCTGCACACCTAGTCCAGATCAGATCAGC c.840
L A S A S A S A E R S C T P S P D Q I S p.280
. . . . . . g.34679
CACAGGGCTTCCCTGGAGGACGCGCCTGTGGACGATCTCACCCGCAAGTTCACGTATCTG c.900
H R A S L E D A P V D D L T R K F T Y L p.300
. . . . . . g.34739
GGGAGTCAGGATCGCGCTCGGCCTCCCTCAGGCTCGTCCAAGGCTACTGATCTTGGAGGA c.960
G S Q D R A R P P S G S S K A T D L G G p.320
. . . . . . g.34799
ACAAGTCAGGCCGGGACAAGCCAGAGGTTTTTAGAGAACGGCAGTCAAGAGGACCTCTTG c.1020
T S Q A G T S Q R F L E N G S Q E D L L p.340
. . . . . . g.34859
CATGGAAATCCAGGCAGCACTTACCTTGCTTCCAATTCAACATCAGCCCCCAACTGGAAG c.1080
H G N P G S T Y L A S N S T S A P N W K p.360
. . . . . . g.34919
AGCCTCACATCCTGGACGAATGACCAAGGCGCCAGGAGAAAGACTGTGTTTTCTCCCACG c.1140
S L T S W T N D Q G A R R K T V F S P T p.380
. . . . . . g.34979
CTACCTGCCGCCCGCTCTTCTCTTGGCTCTCTGCAAACACCTGAAGCTGTGACCACCAGA c.1200
L P A A R S S L G S L Q T P E A V T T R p.400
. . . . . . g.35039
AAGGGCACAGGCTTGCTTTCCTCAGACTACAGGATCATCAATGGCAAAAGTGGAACTCAG c.1260
K G T G L L S S D Y R I I N G K S G T Q p.420
. . . . . . g.35099
GACATCCAGCCTGGCCCTCTTTTTAATAATAATGCTGATGGAGTGGCCACAGATATAACT c.1320
D I Q P G P L F N N N A D G V A T D I T p.440
. . . . . . g.35159
TCTACCAGATCCTTAAATTACAAAAGCACTAGCAGCGGTCACAGAGAAATATCATCACCT c.1380
S T R S L N Y K S T S S G H R E I S S P p.460
. . . . . . g.35219
AGGATTCAGGATGCTGGACCTGCTTCCCGAGATGTCCAGGCCACTGGCAGAATCGCAGAT c.1440
R I Q D A G P A S R D V Q A T G R I A D p.480
. . . | 05 . . . g.36095
GATGCTGACCCAAGAGTAGCACTTGTTAACG | ATTCTTTATCTGATGTCACAAGTACCACA c.1500
D A D P R V A L V N D | S L S D V T S T T p.500
. . . . . . g.36155
TCTTCTAGGGTGGATGATCATGACTCAGAGGAAATTTGTCTTGACCATCTGTGTAAGGGT c.1560
S S R V D D H D S E E I C L D H L C K G p.520
. | 06 . . . . . g.38357
TGTCCGCTTAATG | GTAGCTGCAGCAAAGTCCACTTCCATCTGCCTTACCGGTGGCAGATG c.1620
C P L N G | S C S K V H F H L P Y R W Q M p.540
. . . . . . g.38417
CTTATTGGTAAAACCTGGACGGACTTTGAGCACATGGAGACGATCGAGAAAGGCTACTGT c.1680
L I G K T W T D F E H M E T I E K G Y C p.560
. | 07. . . . . g.40732
AACCCCGGAATCCACCT | CTGTTCTGTAGGAAGTTATACAATCAATTTTCGGGTAATGAGT c.1740
N P G I H L | C S V G S Y T I N F R V M S p.580
. . . . . . g.40792
TGTGATTCCTTTCCCATCCGACGCCTCTCCACTCCTTCTTCTGTCACCAAGCCAGCCAAT c.1800
C D S F P I R R L S T P S S V T K P A N p.600
. . . . . . g.40852
TCTGTCTTCACCACCAAATGGATTTGGTATTGGAAGAATGAATCTGGCACATGGATTCAG c.1860
S V F T T K W I W Y W K N E S G T W I Q p.620
. | 08 . . . . . g.49768
TATGGAGAAGAG | AAAGACAAACGGAAAAATTCAAACGTCGACTCTTCATACCTGGAGTCT c.1920
Y G E E | K D K R K N S N V D S S Y L E S p.640
. . . . . . g.49828
CTCTATCAATCCTGTCCGAGGGGAGTTGTGCCATTTCAGGCGGGCTCACGGAACTATGAG c.1980
L Y Q S C P R G V V P F Q A G S R N Y E p.660
. | 09 . . . . . g.53628
CTGAGTTTCCAAG | GGATGATTCAGACAAACATAGCTTCCAAAACTCAAAAGGATGTCATC c.2040
L S F Q G | M I Q T N I A S K T Q K D V I p.680
. . . . . | 10 . g.59428
AGAAGACCAACATTTGTGCCTCAGTGGTATGTGCAGCAGATGAAGAGAGGGCCAGA | CCAT c.2100
R R P T F V P Q W Y V Q Q M K R G P D | H p.700
. . . . . . g.59488
CAGCCAGCAAAGACCTCGTCAGTGTCTTTAACTGCGACCTTTCGTCCTCAGGAGGACTTT c.2160
Q P A K T S S V S L T A T F R P Q E D F p.720
. . | 11. . . . g.60657
TGCTTCCTATCCTCAAAGAAATATAAG | TTGTCAGAGATCCATCACCTACATCCAGAATAT c.2220
C F L S S K K Y K | L S E I H H L H P E Y p.740
. . . . . . g.60717
GTCAGAGTAAGTGAGCATTTTAAAGCTTCCATGAAAAATTTCAAGATTGAAAAGATAAAG c.2280
V R V S E H F K A S M K N F K I E K I K p.760
. . . | 12 . . g.61160
AAGATCGAGAACTCAGAGCTCCTGGATAAATTTACATG | GAAGAAATCGCAGATGAAGGAA c.2340
K I E N S E L L D K F T W | K K S Q M K E p.780
. . . . . . g.61220
GAAGGAAAACTCCTATTTTATGCGACAAGCCGTGCCTATGTGGAATCTATCTGTTCGAAT c.2400
E G K L L F Y A T S R A Y V E S I C S N p.800
. . . . | 13 . g.66877
AATTTTGACAGTTTCCTACATGAAACTCATGAAAACAAATACGGAAAAG | GAATTTACTTT c.2460
N F D S F L H E T H E N K Y G K G | I Y F p.820
. . . . . . g.66937
GCAAAAGATGCCATCTATTCCCACAAAAATTGCCCGTATGATGCCAAAAACGTCGTTATG c.2520
A K D A I Y S H K N C P Y D A K N V V M p.840
. . . . . . g.66997
TTTGTAGCCCAAGTTCTGGTTGGAAAGTTTACTGAAGGAAATATAACGTACACGAGCCCT c.2580
F V A Q V L V G K F T E G N I T Y T S P p.860
. . . . . . g.67057
CCTCCACAGTTCGACAGCTGTGTGGATACCAGATCGAATCCCTCCGTTTTTGTCATCTTT c.2640
P P Q F D S C V D T R S N P S V F V I F p.880
. . . . . . g.67117
CAGAAAGATCAGGTTTACCCACAATATGTGATTGAATATACTGAAGACAAAGCCTGCGTG c.2700
Q K D Q V Y P Q Y V I E Y T E D K A C V p.900
g.67126
ATTAGTTAG c.2709
I S X p.902
. . . . . . g.67186
aaccgatgaatacagcgtcagaaggatgccataaccattctgttcctttacagaactaaa c.*60
. . . . . . g.67246
ttgccgcagacaggagttaaagttttatattttcctgctcagttatctaatgtcttagat c.*120
. . . . . . g.67306
cagtggtccccaaattttgctacatattagaatcatctgggaggttttaaacaaattctg c.*180
. . . . . . g.67366
atgcccaggttgcaccccatgccaatgaaatcatttctgggcgtcagcgccaggcagttg c.*240
. . . . . . g.67426
tatttttttttttttttttttttttgagactgaatctcactccatcgtccaggctggagt c.*300
. . . . . . g.67486
gcagtggcgcgatctcggctcactgcaacctctgcctcccgggttcaagcaattctcctg c.*360
. . . . . . g.67546
cctcagcctcccgagtagctggaactacaggcacacactgccgcgcccagctaatttttt c.*420
. . . . . . g.67606
gtattttttagtagagacagggtttcactgtgttgcccaggctggtctcaaactcctgag c.*480
. . . . . . g.67666
ctcaggcaatctgcccgccttggcctcccaaagtgctaggattacaggtatgagccacca c.*540
. . . . . . g.67726
tgcccggctggcagttgtattttttaaagcccttctgatgattccaatgtgttggaaagt c.*600
. . . . . . g.67786
ttaccttgtctcagatgtaactggtaaaggctgatttctaaattttctgtaattgcagca c.*660
. . . . . . g.67846
acctttctctcctgtctacccttttagtttactgtatgccatggttttgttttggttaca c.*720
. . . . . . g.67906
ttgaaagaaagttaatttggaaaatttgggagaaatctaatcatgcctattaaggatgta c.*780
. . . . . . g.67966
agacattacagccttagaagaaagattgtgaaaagctggggagaaaatgcttaaggacat c.*840
. . . . . . g.68026
gctaggggaaaaaaaagtaaaattgaagtgctattgcagacatggctgcagtactgtacc c.*900
. . . . . . g.68086
ttatcattctgatgaaactgatttggagcacccttttctttatcgctacatttatttagg c.*960
. . . . . . g.68146
ggacaaactccatccaggttgactctctctggaatgcggtaataagagctggcaagtaag c.*1020
. . . . . . g.68206
gctcagagagaagcaaccaactggagttaattgcccatttgggctctttgtataattatg c.*1080
. . . . . . g.68266
gcaaagtagacatttatgttctaattaatatgattacagagaaggctttttctcaggtca c.*1140
. . . . . . g.68326
ggcttttcatgaaagtattttgagaacaatgaattgcaataaccagcttcacacaagcat c.*1200
. . . . . . g.68386
aactgataaacgcgagtgctattgtagtcttggcaagtgagccaagaacctaggagcagg c.*1260
. . . . . . g.68446
gccattcctactgaaggacgggccccctacggagatgaaatttgtttcctggtgagcaca c.*1320
. . . . . . g.68506
gaatcagaacaaagaacaatatcccaaagaggccctgtgtctaccaggagcttctttttc c.*1380
. . . . . . g.68566
caaatgtaatggattatgtggaattgtagtgccatcggtttttacttagagcccttgacg c.*1440
. . . . . . g.68626
tgcttggaccaatatttccttccttcttatgaaccaggtttttccttctgattttccctt c.*1500
. . . . . . g.68686
ttcaacattccttaccagtcaccaaagtttcctgttataatttcttttagcagacaagtt c.*1560
. . . . . . g.68746
ataagtcagatttaattagcatcagagttgattttatattagtcagattttggatcatca c.*1620
. . . . . . g.68806
cagagatctccacaactccttggcttaaacagctccaccggtaaaaaaaaaaaaaaaaaa c.*1680
. . . . . . g.68866
aaaaaaaaaaaatagtttttttagagtagagttattttctgggagagttactacaaatgc c.*1740
. . . . . . g.68926
ttattctcattgacttatttctttcatggtaactttcgttttggagtgttcattttctga c.*1800
. . . . . . g.68986
acttgaccctcacattgtaggggtgcagtttgtccaactctttccaacagcccattagac c.*1860
. . . . . . g.69046
accactagctggatatttcacaggcatctttgattcaatatgtccaaagtggaactctcc c.*1920
. . . . . . g.69106
atctacctccctcacatgaacctgttcctctctcaggatctgtatgtaagtgaaaagcat c.*1980
. . . . . . g.69166
caccatctacccattggctcaagcagaaatctggaagtcatctttgactccttcctctcc c.*2040
. . . . . . g.69226
ctcctgataaacatctaagcagtttctaagtctagttttacctcttaaatatctctgttc c.*2100
. . . . . . g.69286
ccttctaagttgtttgctgtgttttcttcagagcaagaaggttatattttttaaaattta c.*2160
. . . . . . g.69346
cttagtaatgcacattcaaaacacacatcaagtcttcaggataaagttcaaaaccgctgt c.*2220
. . . . . . g.69406
catggccccatgtgatctctccctcccctacccctctatcatttagtttcttctgcgcaa c.*2280
. . . . . . g.69466
gccactctggcttcctttcagttttgtggttcccatttttagctagttcagtggttttca c.*2340
. . . . . . g.69526
atgggcatttctgcctttttttttctaaacgacaaatagaaatacatcttctttattatc c.*2400
. . . . . . g.69586
ctccaaatccaattcagaggtaatatgctccacctacacacaattttagaaataaattaa c.*2460
. . . . . . g.69646
aaattaaataaaactaatatgaacataaagaggaaataaaaggtacctaacttgggcaca c.*2520
. . . . . . g.69706
gctgtaactgaagacctaatgaagtagtcagatgcttacaactatttataatgcatcaat c.*2580
. . . . . . g.69766
ttgaacttagaaggtaggagatcagatcatatgtgggaaaatgtaaaagcagggatatca c.*2640
. . . . . . g.69826
gtgggcattagaataaaaactagggatacaataacttctttgcatatgacaatacttatt c.*2700
. . . . . . g.69886
tgtatataagagaaagaacgaaataacctttattgaaataaagatactatgcaagaaaat c.*2760
. . . . . . g.69946
gtacagttgtcgaagtggagaaaatgaggatatattcttgcagacgagctataggtcata c.*2820
. . . . . . g.70006
catgaatgtctagtgagacattcaaaattcgtatagggtgcagagtaatttcttattgtg c.*2880
. . . . . . g.70066
aggaactgtccaatgtattgcaagatgttctgcatacttggctctcacatactaaatgct c.*2940
. . . . . . g.70126
agtagcgcccccacccccacgcccagtcacggtgacaaccacaaaccctatcagatctat c.*3000
. . . . . . g.70186
tcacctttttcagagcagatattttgtaacattctctttgctgacctgaaatgactcata c.*3060
. . . . . . g.70246
gataatacaatctacttacacacatgaatttcttaaaaaaatcaatttaatgccctaact c.*3120
. . . . . . g.70306
ctcttattaaggagaaatagaaaagaagaaatttataatgaaaagaagatgaatttcatt c.*3180
. . . . . . g.70366
atgtaaacgctcaggcatgactacgctgtttgaaacagacagatgtttactcttccttgt c.*3240
. . . . . . g.70426
aatgagtaggtttggatttaagagccgattagaggctacttcctgtaaacaagtacagga c.*3300
. . . . . . g.70486
aaatgaaactagacgggtgggggacactagaatgaaaaccagtgttagggtaaagacaaa c.*3360
. . . . . . g.70546
acagactatgtacataatctgtatatgggaaaagaaagagcgaaattaccttacttaagg c.*3420
. . . . . . g.70606
ataataggacaagacaaattacagattgtctcagagaaaacaaatgagttactctctcgg c.*3480
. . . . . . g.70666
acaagctgtaggtcctacctaaatgtccagcaggacattagacagtcgtacagggtacag c.*3540
. . . . . . g.70726
aataattcttcgttgtgtggcactaacccacacactgcaggacatcgttctccctggctg c.*3600
. . . . . . g.70786
catccactcagtgctgggagtagtccccagttattatgaaaccaccaataacccactgac c.*3660
. . . . . . g.70846
cacagtgagaaccactgattttttccactgacctactgaatatctagcatccttagattg c.*3720
. . . . . . g.70906
gctcaactgttactttcctaaggagtccttctacagaataggtcagatcttggcctccca c.*3780
. . . . . . g.70966
aaccccttatttttaaaatactttgcgccttgctttgataatttgtattatgtatccaaa c.*3840
. . . . . . g.71026
ctgaaattatctgctttctgcattagaatgtaagccccctgagggttgagtcagtctgtc c.*3900
. . . . . . g.71086
ttgtttgctgtgccacgcctgatgcccagcccagcagcatgctttgtacactgatatatt c.*3960
. . . . . . g.71146
gggtaaattttgttgaataaattaagctcaactatttgtatttcaatagttgagttgtat c.*4020
. . . . . g.71200
tgcttcctgttcttcaagcttaatttgaactgtctaataaaaagaagtaattaa c.*4074
(downstream sequence)
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