(used for variant description)
(last modified November 25, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000422.2 in the KRT17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering KRT17 transcript NM_000422.2.
(upstream sequence)
g.5001
a c.-121
. . . . . . g.5061
tcgctacgcccacttggtggcctataaaggaagcgggcgaaccccggcagccctacacaa c.-61
. . . . . . g.5121
cttggggcccctctcctctccagcccttctcctgtgtgcctgcctcctgccgccgccacc c.-1
. . . . . . g.5181
ATGACCACCTCCATCCGCCAGTTCACCTCCTCCAGCTCCATCAAGGGCTCCTCCGGCCTG c.60
M T T S I R Q F T S S S S I K G S S G L p.20
. . . . . . g.5241
GGGGGCGGCTCGTCCCGCACCTCCTGCCGGCTGTCTGGCGGCCTGGGTGCCGGCTCCTGC c.120
G G G S S R T S C R L S G G L G A G S C p.40
. . . . . . g.5301
AGGCTGGGATCTGCTGGCGGCCTGGGCAGCACCCTCGGGGGTAGCAGCTACTCCAGCTGC c.180
R L G S A G G L G S T L G G S S Y S S C p.60
. . . . . . g.5361
TACAGCTTTGGCTCTGGTGGTGGCTATGGCAGCAGCTTTGGGGGTGTTGATGGGCTGCTG c.240
Y S F G S G G G Y G S S F G G V D G L L p.80
. . . . . . g.5421
GCTGGAGGTGAGAAGGCCACCATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGAC c.300
A G G E K A T M Q N L N D R L A S Y L D p.100
. . . . . . g.5481
AAGGTGCGTGCCCTGGAGGAGGCCAACACTGAGCTGGAGGTGAAGATCCGTGACTGGTAC c.360
K V R A L E E A N T E L E V K I R D W Y p.120
. . . . . . g.5541
CAGAGGCAGGCCCCGGGGCCCGCCCGTGACTACAGCCAGTACTACAGGACAATTGAGGAG c.420
Q R Q A P G P A R D Y S Q Y Y R T I E E p.140
. | 02 . . . . . g.6646
CTGCAGAACAAG | ATCCTCACAGCCACCGTGGACAATGCCAACATCCTGCTACAGATTGAC c.480
L Q N K | I L T A T V D N A N I L L Q I D p.160
. . . | 03 . . . g.7144
AATGCCCGTCTGGCTGCTGATGACTTCCGCACCAA | GTTTGAGACAGAGCAGGCCCTGCGC c.540
N A R L A A D D F R T K | F E T E Q A L R p.180
. . . . . . g.7204
CTGAGTGTGGAGGCCGACATCAATGGCCTGCGCAGGGTGCTGGATGAGCTGACCCTGGCC c.600
L S V E A D I N G L R R V L D E L T L A p.200
. . . . . . g.7264
AGAGCCGACCTGGAGATGCAGATTGAGAACCTCAAGGAGGAGCTGGCCTACCTGAAGAAG c.660
R A D L E M Q I E N L K E E L A Y L K K p.220
. | 04 . . . . . g.7924
AACCACGAGGAG | GAGATGAACGCCCTGCGAGGCCAGGTGGGTGGTGAGATCAATGTGGAG c.720
N H E E | E M N A L R G Q V G G E I N V E p.240
. . . . . . g.7984
ATGGACGCTGCCCCAGGCGTGGACCTGAGCCGCATCCTCAACGAGATGCGTGACCAGTAT c.780
M D A A P G V D L S R I L N E M R D Q Y p.260
. . . . . | 05 . g.8545
GAGAAGATGGCAGAGAAGAACCGCAAGGATGCCGAGGATTGGTTCTTCAGCAAG | ACAGAG c.840
E K M A E K N R K D A E D W F F S K | T E p.280
. . . . . . g.8605
GAACTGAACCGCGAGGTGGCCACCAACAGTGAGCTGGTGCAGAGTGGCAAGAGTGAGATC c.900
E L N R E V A T N S E L V Q S G K S E I p.300
. . . . . . g.8665
TCGGAGCTCCGGCGCACCATGCAGGCCTTGGAGATAGAGCTGCAGTCCCAGCTCAGCATG c.960
S E L R R T M Q A L E I E L Q S Q L S M p.320
| 06 . . . . . . g.8811
| AAAGCATCCCTGGAGGGCAACCTGGCGGAGACAGAGAACCGCTACTGCGTGCAGCTGTCC c.1020
| K A S L E G N L A E T E N R Y C V Q L S p.340
. . . . . . g.8871
CAGATCCAGGGGCTGATTGGCAGCGTGGAGGAGCAGCTGGCCCAGCTTCGCTGCGAGATG c.1080
Q I Q G L I G S V E E Q L A Q L R C E M p.360
. . . . . . g.8931
GAGCAGCAGAACCAGGAATACAAAATCCTGCTGGATGTGAAGACGCGGCTGGAGCAGGAG c.1140
E Q Q N Q E Y K I L L D V K T R L E Q E p.380
. . . . | 07 . . g.9091
ATTGCCACCTACCGCCGCCTGCTGGAGGGAGAGGATGCCCA | CCTGACTCAGTACAAGAAA c.1200
I A T Y R R L L E G E D A H | L T Q Y K K p.400
| 08 . . . . . . g.9998
GAAC | CGGTGACCACCCGTCAGGTGCGTACCATTGTGGAAGAGGTCCAGGATGGCAAGGTC c.1260
E P | V T T R Q V R T I V E E V Q D G K V p.420
. . . g.10037
ATCTCCTCCCGCGAGCAGGTCCACCAGACCACCCGCTGA c.1299
I S S R E Q V H Q T T R X p.432
. . . . . . g.10097
ggactcagctaccccggccggccacccaggaggcagggaggcagccgccccatctgcccc c.*60
. . . . . . g.10157
acagtctccggcctctccagcctcagccccctgcttcagtcccttccccatgcttccttg c.*120
. . . g.10191
cctgatgacaataaagcttgttgactcagctatg c.*154
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2021 Leiden University Medical Center