(used for variant description)
(last modified February 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000216.2 in the KAL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021195.1, covering KAL1 transcript NM_000216.2.
(upstream sequence)
. . . g.5030
gtcggcgaggagggtccggccggagttgaa c.-121
. . . . . . g.5090
ggattgaactttccggctcagtcgcggcgtctgcctggtcctcagcagtgcagccccggc c.-61
. . . . . . g.5150
gcggagcagggagcctcggcccgcgcccggcgccctcgccctcgccctcgacccgcagcc c.-1
. . . . . . g.5210
ATGGTGCCCGGGGTGCCCGGCGCGGTCCTGACCCTCTGCCTCTGGCTGGCGGCCTCCAGC c.60
M V P G V P G A V L T L C L W L A A S S p.20
. . . . . . g.5270
GGCTGCCTGGCGGCCGGCCCCGGCGCGGCTGCTGCGCGGCGGCTGGACGAGTCGCTGTCT c.120
G C L A A G P G A A A A R R L D E S L S p.40
. . . . . . g.5330
GCCGGGAGCGTCCAGCGCGCTCGCTGCGCCTCCAGGTGCCTGAGCCTGCAGATCACTCGC c.180
A G S V Q R A R C A S R C L S L Q I T R p.60
. . | 02. . . . g.37474
ATCTCCGCCTTCTTCCAGCACTTCCAG | AACAATGGTTCCCTGGTTTGGTGCCAGAATCAC c.240
I S A F F Q H F Q | N N G S L V W C Q N H p.80
. | 03 . . . . . g.113561
AAGCAATGTTCTAAG | TGCCTGGAGCCCTGCAAGGAATCAGGGGACCTGAGGAAACACCAG c.300
K Q C S K | C L E P C K E S G D L R K H Q p.100
. | 04 . . . . g.139972
TGCCAAAGCTTTTGTGAG | CCTCTCTTCCCCAAGAAGAGCTACGAATGCTTGACCAGCTGT c.360
C Q S F C E | P L F P K K S Y E C L T S C p.120
. . . . . . g.140032
GAGTTCCTCAAATACATCCTGTTGGTGAAGCAGGGGGACTGTCCGGCTCCTGAGAAAGCC c.420
E F L K Y I L L V K Q G D C P A P E K A p.140
. . . . . . g.140092
AGTGGATTTGCGGCCGCCTGTGTTGAAAGCTGCGAAGTTGACAATGAGTGCTCTGGGGTG c.480
S G F A A A C V E S C E V D N E C S G V p.160
. . . . . . g.140152
AAGAAATGTTGTTCGAATGGGTGTGGACACACCTGTCAAGTACCCAAGACTCTGTACAAA c.540
K K C C S N G C G H T C Q V P K T L Y K p.180
| 05 . . . . . . g.149267
G | GTGTCCCCCTGAAGCCCAGAAAAGAGTTACGATTTACAGAACTGCAGTCTGGACAGCTG c.600
G | V P L K P R K E L R F T E L Q S G Q L p.200
. . . . . . g.149327
GAGGTTAAGTGGTCCTCGAAATTCAATATTTCTATTGAGCCTGTGATCTATGTGGTACAA c.660
E V K W S S K F N I S I E P V I Y V V Q p.220
. . . . . . g.149387
AGAAGATGGAATTATGGAATCCATCCTAGCGAAGATGACGCCACTCACTGGCAGACAGTG c.720
R R W N Y G I H P S E D D A T H W Q T V p.240
| 06 . . . . . . g.151844
GCCCAG | ACCACAGACGAGCGAGTTCAACTGACTGACATAAGACCCAGCCGATGGTACCAG c.780
A Q | T T D E R V Q L T D I R P S R W Y Q p.260
. . . . . . g.151904
TTTCGAGTGGCTGCTGTGAATGTGCATGGAACTCGAGGCTTCACTGCCCCCAGCAAACAC c.840
F R V A A V N V H G T R G F T A P S K H p.280
. | 07 . . . . . g.166526
TTCCGTTCTTCCAAAG | ATCCATCTGCCCCACCAGCACCGGCTAACCTCCGGCTGGCCAAC c.900
F R S S K D | P S A P P A P A N L R L A N p.300
. . . . . . g.166586
TCCACCGTCAACAGTGATGGGAGTGTGACCGTCACTATAGTTTGGGATCTCCCCGAGGAG c.960
S T V N S D G S V T V T I V W D L P E E p.320
. . . . . . g.166646
CCGGACATCCCTGTGCATCATTACAAGGTCTTTTGGAGCTGGATGGTCAGCAGTAAGTCT c.1020
P D I P V H H Y K V F W S W M V S S K S p.340
. . . . | 08 . . g.168828
CTTGTCCCAACAAAGAAGAAGCGGAGAAAGACTACGGATGGG | TTTCAAAATTCTGTGATC c.1080
L V P T K K K R R K T T D G | F Q N S V I p.360
. . . . . . g.168888
CTGGAGAAACTCCAGCCAGACTGTGACTATGTTGTGGAATTGCAAGCCATAACGTACTGG c.1140
L E K L Q P D C D Y V V E L Q A I T Y W p.380
. . . . . . g.168948
GGACAGACACGGCTGAAGAGTGCAAAGGTGTCCCTTCACTTCACATCGACACATGCAACC c.1200
G Q T R L K S A K V S L H F T S T H A T p.400
| 09. . . . . . g.183141
AACAACA | AAGAACAGCTTGTGAAAACTAGAAAAGGTGGAATTCAAACACAACTCCCTTTT c.1260
N N K | E Q L V K T R K G G I Q T Q L P F p.420
. . . . . . g.183201
CAAAGACGACGACCCACTCGCCCGCTGGAAGTCGGAGCTCCCTTCTATCAGGATGGCCAA c.1320
Q R R R P T R P L E V G A P F Y Q D G Q p.440
. . . | 10 . . . g.197454
CTGCAAGTTAAAGTCTACTGGAAGAAGACAGAAG | ATCCCACTGTCAACCGATATCATGTG c.1380
L Q V K V Y W K K T E D | P T V N R Y H V p.460
. . . . . . g.197514
CGGTGGTTTCCTGAAGCGTGTGCCCACAACAGAACAACCGGATCAGAGGCATCATCTGGC c.1440
R W F P E A C A H N R T T G S E A S S G p.480
| 11 . . . . . g.200295
ATGACCCAC | GAAAATTACATAATTCTTCAAGATCTGTCATTTTCCTGCAAGTATAAGGTG c.1500
M T H | E N Y I I L Q D L S F S C K Y K V p.500
. . . . . . g.200355
ACTGTCCAACCAATACGGCCAAAAAGTCACTCCAAGGCAGAAGCTGTTTTCTTCACTACT c.1560
T V Q P I R P K S H S K A E A V F F T T p.520
. . . . . . g.200415
CCACCATGCTCTGCTCTTAAGGGGAAGAGCCACAAGCCTGTTGGCTGCCTGGGCGAAGCA c.1620
P P C S A L K G K S H K P V G C L G E A p.540
| 12 . . . . . . g.201434
G | GTCATGTTCTTTCTAAGGTGCTAGCTAAGCCTGAGAACCTTTCTGCTTCATTCATCGTC c.1680
G | H V L S K V L A K P E N L S A S F I V p.560
. . . . . . g.201494
CAGGATGTGAACATCACCGGTCACTTTTCTTGGAAGATGGCCAAGGCCAATCTCTATCAG c.1740
Q D V N I T G H F S W K M A K A N L Y Q p.580
. . . . . . g.201554
CCCATGACTGGGTTTCAAGTGACTTGGGCTGAGGTCACTACGGAAAGCAGACAGAACAGC c.1800
P M T G F Q V T W A E V T T E S R Q N S p.600
. . . . | 13 . . g.202744
CTACCCAACAGCATTATTTCACAGTCCCAGATCCTGCCTTCC | GATCATTATGTCCTAACA c.1860
L P N S I I S Q S Q I L P S | D H Y V L T p.620
. . . . . . g.202804
GTGCCCAATCTGAGACCATCTACTCTTTACCGACTGGAAGTGCAAGTGCTGACCCCAGGA c.1920
V P N L R P S T L Y R L E V Q V L T P G p.640
. . . . . . g.202864
GGGGAGGGGCCGGCCACCATCAAGACGTTCCGGACGCCGGAGCTCCCACCCTCTTCAGCA c.1980
G E G P A T I K T F R T P E L P P S S A p.660
| 14 . . . . . . g.204189
CACA | GATCTCATCTTAAGCATCGTCATCCACATCATTACAAGCCTTCTCCAGAAAGATAC c.2040
H R | S H L K H R H P H H Y K P S P E R Y p.680
g.204192
TAA c.2043
X p.680
. . . . . . g.204252
actgttcaaaaagattttgtgaaattgcacagatgtgtaagcttgttgaacttcggccac c.*60
. . . . . . g.204312
gagacatgcacacttccagaggcagtgggaactgctcagaggcccggactctcctatgtg c.*120
. . . . . . g.204372
actttagtgcaggaagaacttctgtcaatcatggacgcatctggagacaagtgagaaaca c.*180
. . . . . . g.204432
gtagattggtgaagacagacaccagttccctacaagcatggagaaaatgaagaataggcc c.*240
. . . . . . g.204492
tgtttaatgctaaattttgttttcatgtatggtgtcgctcatttctattgaattacaaca c.*300
. . . . . . g.204552
gaactcagttttccctgaatttggagcaccaaactccgccccaaaaaggagagtaacaaa c.*360
. . . . . . g.204612
tacacaattcacacataacactaagcgtaaatctaatcaataaaatatatttttgactaa c.*420
. . . . . . g.204672
attattgattcgatatgaaaaatcaactaagattacacagctttgtttttttgaatcttt c.*480
. . . . . . g.204732
cctaagatcatttttatcctaggtgatttttaaatgaaaatgtgtaatctaaaatatacc c.*540
. . . . . . g.204792
agcgaatttaaatctaaaaatgctcctactttaagtaccttgtgctgctctttatgcaaa c.*600
. . . . . . g.204852
ggtaaatcaaagttccctctataaattatgatttacaaaagacacccaagccagaggaac c.*660
. . . . . . g.204912
tcaatgaaataagctgctaatcagattttaccttggagaaatgaaaattatttcttgggg c.*720
. . . . . . g.204972
atgccttttaatatttgatcctattatgtgagagattttcctgatatgttatcttattta c.*780
. . . . . . g.205032
tattttcccttattttcctcaatgcagataatagcttttggtgcacttttgtttcaccat c.*840
. . . . . . g.205092
ctgaaaattcacaaaacttcttgcttcaaatgaaaaaatcccaactattgagcatgttta c.*900
. . . . . . g.205152
aatctttgcagagatttgccttttcttaatcaaagaaaggtctttgtgtgctagaatatt c.*960
. . . . . . g.205212
attggtaatgttttaaaaattcctttgattgatagagaaggacagttatttgcatttaat c.*1020
. . . . . . g.205272
tcacccatatgctttcaaatctagtatatcttactttttggaaatgttttatgctacaaa c.*1080
. . . . . . g.205332
ttagtgccttgtagcatgaacttaagtcaaaacgtgttatcaatatagagtgttgcagtg c.*1140
. . . . . . g.205392
tatattgtaacaacctaaaacgcagagaagtttaatttaatactgttttttttcttgaag c.*1200
. . . . . . g.205452
gaatactcacatacatggtttgaaatgtgcatagatatgcatgtctatataattataaat c.*1260
. . . . . . g.205512
gcatgtgtatatatatgcaaatatatgtacatatacatgtatatacacacagacacatgc c.*1320
. . . . . . g.205572
atatacatgaatataccttgagcatgaatccctggagaaatcgttttcgtagctcaccaa c.*1380
. . . . . . g.205632
tggtgagtaaagatacagctcttttaaaggtcataaggataatatattttccccatcaat c.*1440
. . . . . . g.205692
gctgattctgagaaaagagcaatttatcaaaattaaacactgtaaaagaaaggtgtccat c.*1500
. . . . . . g.205752
atgtctttacctacctaagtaaaacaggaagaaaatcagtaacattatccttaggttttg c.*1560
. . . . . . g.205812
acaatggtacttgcttcttgttgttttattgtttcctgaattcatgcagatgcctggcca c.*1620
. . . . . . g.205872
ttcctgggaagagtggataactcagaagtcactgtactccacagagcctcactgcagtgt c.*1680
. . . . . . g.205932
ctaaaggtagatgcaaattaaaatgcagggaaaataacttttctgatgttgatgcatgtc c.*1740
. . . . . . g.205992
tttgggaaacacatttataaacatggatacctgataatagatattgaaacccatttcctg c.*1800
. . . . . . g.206052
tgtgttaaaatatttaaaaagtggatattccaggaatgttttgcagctttgtacaagtaa c.*1860
. . . . . . g.206112
cataaattggacacctcagaatgaaagttcatgttggttctgaatggttcactgcagctc c.*1920
. . . . . . g.206172
ctgtcacaagctgggatggatttatcacattgagttatgaaattacctggttctaagaat c.*1980
. . . . . . g.206232
ttttgagtggcaaaaatagaaaacaatcttcatttgaaaacatccctaagcttgaataaa c.*2040
. . . . . . g.206292
tggataccatagatagcttctcttttttattctggtgtcattaccagcatctgaatttca c.*2100
. . . . . . g.206352
agttcttaaaatttcaaaaattaaaatttttcattattagctatccatttatcttttaca c.*2160
. . . . . . g.206412
tgaacttgtcatgaacaaattcaaatgtttatgccagcaaatttttgtactgttgcatag c.*2220
. . . . . . g.206472
ttaaaaatgctgggagtctctgcatagatacaaaatattattaaattattacataaattt c.*2280
. . . . . . g.206532
aattttataaaatttaatcatgcttcttttgtctgggtaatagacattggacagatattt c.*2340
. . . . . . g.206592
ttagttcagatggtgattctgaagcttacatctcccttaaaaaaatctaaagcagctctt c.*2400
. . . . . . g.206652
atgggcttctaattttaatataaataaataatttaaattttattggtgttattggaagaa c.*2460
. . . . . . g.206712
aaatgctattaatgggctaataaaaaacatgtgtttctcttatggattttaataagctcc c.*2520
. . . . . . g.206772
agtattattcaaatgatcaaaaatatagttataattttttgaattttaaaaatgtgattg c.*2580
. . . . . . g.206832
ctctaataaagaataaaatctatgctttttaacaaacatagttttggtgcctaattctgt c.*2640
. . . . . . g.206892
aatatgttttattgaaattagattcatttctctaatgtgagaaaaatatatccagtaata c.*2700
. . . . . . g.206952
gtattgactgtttaaaaaattgagctcatcaaaaatattgtcatcaaatacaggtggtta c.*2760
. . . . . . g.207012
atctgacatacattgcagttacatgcattatttttatttacaacatttgctccttaatga c.*2820
. . . . . . g.207072
tgaatttatctgtgttaccctgtttttctacctggaactccatagaatgatgtttgcaaa c.*2880
. . . . . . g.207132
ccaacatgtgctcttttcagtcattcactgttttaatatgacatggtagagaagataagg c.*2940
. . . . . . g.207192
tttatggcaggtaattttttgtaatgtgtattaaacgaagttcaaagattagaaatacat c.*3000
. . . . . . g.207252
ctgtgtcctgaaaaccttagatacatagccgactgtatacagaggttcatctcaacctca c.*3060
. . . . . . g.207312
acactattgacttttggggctggatagttctctgttgtgggggtttgtcttgtgcactgt c.*3120
. . . . . . g.207372
aggtttttagtagcatccacactttctcctcaccagatgccagttgcaccctcccccaag c.*3180
. . . . . . g.207432
ttgagacaaccaaaaatgtctccagatattgccagctaccccttgagggatggtacctct c.*3240
. . . . . . g.207492
ggttgagaaccattgctagagaatgatctttactgaatttgccctttataagaaacccag c.*3300
. . . . . . g.207552
tgaatttctagagcaagtcccaaaaactaagggacagctaagaagttattatggttgact c.*3360
. . . . . . g.207612
tcaaaggcctaaactgtgttttttatgtccactaaacaacttgattaaaagacggaattt c.*3420
. . . . . . g.207672
tgactcgtgtctgtatcatacaagtacaaatactaattttgccctatgtatccgtaaatg c.*3480
. . . . . . g.207732
tcatttgtgattttgacttatttatttaatgccctttcttatgccgtgggttttcaagtt c.*3540
. . . . . . g.207792
tactcatttctatggttgcaaataactctaaaacttattatataaactttcatattatag c.*3600
. . . . . . g.207852
gcagaacacaatggctaaatatctgttgcatgtactttaaagtttattataaaatataaa c.*3660
. . . . . . g.207912
cagatatataaagatgttgactcttacctgtgattttgcatggtcagactcggtgtcagg c.*3720
. . . . . . g.207972
tacggagaggattctcatgactgtcttacctctactgaatattctagtgagttatatgat c.*3780
. . . . . . g.208032
ttacggagtgattaacagaggtctatataaagttacttttcccctttacttaattatatt c.*3840
. . . . . . g.208092
gtagtgtgcagataacaaaactgctaccttctcatccaagtggtctgtagaattcatgtc c.*3900
. . . . . . g.208152
ccttacagtggtcatttaaagtcaatatttatttatgtatgtaataaaaaaagttggatt c.*3960
. . . . . . g.208212
tttgtgtatgtctgtcacattatttagagagaagtaatcttgtaaaaatgttttgtaaaa c.*4020
. . . . . . g.208272
aacaaaaaagtattgtaaatagtcttgatattctgtgactcattattttcatgttagagt c.*4080
. . . . g.208313
ttgtacatactggttcaataataaagtatccttaaaccaga c.*4121
(downstream sequence)
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