(used for variant description)
(last modified June 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_153490.2 in the KRT13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008406.1, covering KRT13 transcript NM_153490.2.
(upstream sequence)
g.5003
cac c.-61
. . . . . . g.5063
agtcctcggcccaggccaagcaagcttctatctgcacctgctctcaatcctgctctcacc c.-1
. . . . . . g.5123
ATGAGCCTCCGCCTGCAGAGCTCCTCTGCCAGCTATGGAGGTGGTTTCGGGGGTGGCTCT c.60
M S L R L Q S S S A S Y G G G F G G G S p.20
. . . . . . g.5183
TGCCAGCTGGGAGGAGGCCGTGGTGTCTCTACCTGTTCAACTCGGTTTGTGTCTGGGGGA c.120
C Q L G G G R G V S T C S T R F V S G G p.40
. . . . . . g.5243
TCAGCTGGGGGCTATGGAGGCGGCGTGAGCTGTGGTTTTGGTGGAGGGGCTGGTAGTGGC c.180
S A G G Y G G G V S C G F G G G A G S G p.60
. . . . . . g.5303
TTTGGAGGTGGCTATGGAGGTGGCCTTGGAGGTGGCTATGGAGGTGGCCTTGGAGGTGGC c.240
F G G G Y G G G L G G G Y G G G L G G G p.80
. . . . . . g.5363
TTTGGTGGGGGTTTTGCTGGTGGCTTTGTTGACTTTGGTGCTTGTGATGGCGGCCTCCTC c.300
F G G G F A G G F V D F G A C D G G L L p.100
. . . . . . g.5423
ACTGGCAATGAGAAGATCACCATGCAGAACCTCAACGACCGCCTGGCTTCCTACCTGGAG c.360
T G N E K I T M Q N L N D R L A S Y L E p.120
. . . . . . g.5483
AAGGTGCGCGCCCTGGAGGAGGCCAACGCTGACCTGGAGGTGAAGATCCGTGACTGGCAC c.420
K V R A L E E A N A D L E V K I R D W H p.140
. . . . . . g.5543
CTGAAGCAGAGCCCAGCTAGCCCTGAGCGGGACTACAGCCCCTACTACAAGACCATTGAA c.480
L K Q S P A S P E R D Y S P Y Y K T I E p.160
. | 02 . . . . . g.6933
GAGCTCCGGGACAAG | ATCCTGACCGCCACCATTGAAAACAACCGGGTCATCCTGGAGATT c.540
E L R D K | I L T A T I E N N R V I L E I p.180
. . . | 03 . . g.7192
GACAATGCCAGGCTGGCTGCGGACGACTTCAGGCTCAA | GTATGAGAATGAGCTGGCCCTG c.600
D N A R L A A D D F R L K | Y E N E L A L p.200
. . . . . . g.7252
CGCCAGAGCGTGGAGGCCGACATCAACGGCCTGCGCCGGGTGCTGGATGAGCTCACTCTG c.660
R Q S V E A D I N G L R R V L D E L T L p.220
. . . . . . g.7312
TCTAAGACTGACCTGGAGATGCAGATCGAGAGCCTGAATGAAGAGCTAGCCTACATGAAG c.720
S K T D L E M Q I E S L N E E L A Y M K p.240
. | 04 . . . . . g.7560
AAGAACCATGAAGAG | GAGATGAAGGAATTTAGCAACCAGGTGGTCGGCCAGGTCAACGTG c.780
K N H E E | E M K E F S N Q V V G Q V N V p.260
. . . . . . g.7620
GAGATGGATGCCACCCCAGGCATTGACCTGACCCGCGTGCTGGCAGAGATGAGGGAGCAG c.840
E M D A T P G I D L T R V L A E M R E Q p.280
. . . . . | 05. g.7804
TACGAGGCCATGGCAGAGAGGAACCGCCGGGATGCTGAGGAATGGTTCCACGCCAAG | AGT c.900
Y E A M A E R N R R D A E E W F H A K | S p.300
. . . . . . g.7864
GCAGAGCTGAACAAGGAGGTGTCTACCAACACTGCCATGATTCAGACCAGCAAGACAGAG c.960
A E L N K E V S T N T A M I Q T S K T E p.320
. . . . . . g.7924
ATCACGGAGCTCAGGCGCACGCTCCAAGGCCTGGAGATTGAGCTGCAGTCCCAGCTGAGC c.1020
I T E L R R T L Q G L E I E L Q S Q L S p.340
| 06 . . . . . . g.8076
ATG | AAAGCGGGGCTGGAGAACACGGTGGCAGAGACGGAGTGCCGCTATGCCCTGCAGCTG c.1080
M | K A G L E N T V A E T E C R Y A L Q L p.360
. . . . . . g.8136
CAGCAGATCCAGGGACTCATCAGCAGCATCGAGGCCCAGCTGAGCGAGCTCCGCAGTGAG c.1140
Q Q I Q G L I S S I E A Q L S E L R S E p.380
. . . . . . g.8196
ATGGAGTGCCAGAACCAAGAGTACAAGATGCTGCTGGACATCAAGACACGTCTGGAGCAG c.1200
M E C Q N Q E Y K M L L D I K T R L E Q p.400
. . . . | 07 . . g.8885
GAGATCGCCACCTACCGCAGCCTGCTCGAGGGCCAGGACGCCAA | GATGATTGGTTTCCCT c.1260
E I A T Y R S L L E G Q D A K | M I G F P p.420
. | 08 . . . . . g.9301
TCCTCAGCAG | GAAGCGTCAGCCCCCGTAGCACCTCTGTTACCACGACTTCTAGTGCCTCT c.1320
S S A G | S V S P R S T S V T T T S S A S p.440
. . . . . g.9358
GTTACCACCACCTCTAATGCCTCTGGTCGCCGCACTTCTGATGTCCGTAGGCCTTAA c.1377
V T T T S N A S G R R T S D V R R P X p.458
. . . . . . g.9418
atctgcctggcgtcccctccctctgtcttcagcacccagaggaggagagagccggcagtt c.*60
. . . . . . g.9478
ccctgcaggagagaggaggggctgctggacccaaggctcagtccctctgctctcaggacc c.*120
. . . . . . g.9538
ccctgtcctgactctctcctgatggtgggccctctgtgctcttctcttccggtcggatct c.*180
. . . . . . g.9598
ctctcctctctgacctggatacgctttggtttctcaacttctctaccccaaagaaaagat c.*240
. . . g.9633
tattcaataaagtttcctgcctttctgcaaacata c.*275
(downstream sequence)
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