(used for variant description)
(last modified November 1, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000420.2 in the KEL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007492.1, covering KEL transcript NM_000420.2.
(upstream sequence)
. . . g.5030
gggaggagaagcctgggtgccccccactga c.-181
. . . . . . g.5090
taagcaggctccacccagaggccagtcctgtgtgtctggggacaaggcgaaagagcagca c.-121
. . . . . . g.5150
gaagtgccccttctccaggatcaaggaactggggcggggggtgtttcctggaccccagtc c.-61
. . . . . . g.5210
ctccgaatcagctcctagagtggaaccaggaaggattctggagccacagaagatagacag c.-1
| 02 . . . . . . g.5601
ATG | GAAGGTGGGGACCAAAGTGAGGAAGAGCCGAGGGAACGCAGCCAGGCAGGTGGAATG c.60
M | E G G D Q S E E E P R E R S Q A G G M p.20
. . | 03 . . . . g.5954
GGAACTCTCTGGAGCCAAGAG | AGCACTCCAGAAGAGAGGCTGCCCGTGGAAGGGAGCAGG c.120
G T L W S Q E | S T P E E R L P V E G S R p.40
. . . . . . g.6014
CCATGGGCAGTGGCCAGGCGGGTGCTGACAGCTATCCTGATTTTGGGCCTGCTCCTTTGT c.180
P W A V A R R V L T A I L I L G L L L C p.60
. . . . | 04 . . g.6329
TTTTCTGTGCTTTTGTTCTACAACTTCCAGAACTGTGGCCCTC | GCCCCTGTGAGACATCT c.240
F S V L L F Y N F Q N C G P R | P C E T S p.80
. . . . . . g.6389
GTGTGTTTGGATCTCCGGGATCATTACCTGGCCTCTGGGAACACAAGTGTGGCCCCCTGC c.300
V C L D L R D H Y L A S G N T S V A P C p.100
. . . . . . g.6449
ACCGACTTCTTCAGCTTTGCCTGTGGAAGGGCCAAAGAGACCAATAATTCTTTTCAGGAG c.360
T D F F S F A C G R A K E T N N S F Q E p.120
. . . . | 05 . . g.9008
CTTGCCACAAAGAACAAAAACCGACTTCGGAGAATACTGG | AGGTCCAGAATTCCTGGCAC c.420
L A T K N K N R L R R I L E | V Q N S W H p.140
. . . . . . g.9068
CCAGGCTCTGGGGAGGAGAAAGCCTTCCAGTTCTACAACTCCTGCATGGATACACTTGCC c.480
P G S G E E K A F Q F Y N S C M D T L A p.160
. . . . | 06 . . g.9458
ATTGAAGCTGCAGGGACTGGTCCCCTCAGACAAGTTATTGAGGAG | CTTGGAGGCTGGCGC c.540
I E A A G T G P L R Q V I E E | L G G W R p.180
. . . . . . g.9518
ATCTCTGGTAAATGGACTTCCTTAAACTTTAACCGAACGCTGAGACTTCTGATGAGTCAG c.600
I S G K W T S L N F N R T L R L L M S Q p.200
. . . . . . g.9578
TATGGCCATTTCCCTTTCTTCAGAGCCTACCTAGGACCTCATCCTGCCTCTCCACACACA c.660
Y G H F P F F R A Y L G P H P A S P H T p.220
. | 07 . . . . . g.12937
CCAGTCATCCAG | ATAGACCAGCCAGAGTTTGATGTTCCCCTCAAGCAAGATCAAGAACAG c.720
P V I Q | I D Q P E F D V P L K Q D Q E Q p.240
. | 08 . . . . . g.13089
AAGATCTATGCCCAG | ATCTTTCGGGAATACCTGACTTACCTGAATCAGCTGGGAACCTTG c.780
K I Y A Q | I F R E Y L T Y L N Q L G T L p.260
. . . . . . g.13149
CTGGGAGGAGACCCAAGCAAGGTGCAAGAACACTCTTCCTTGTCAATCTCCATCACTTCA c.840
L G G D P S K V Q E H S S L S I S I T S p.280
. . . . . . g.13209
CGGCTGTTCCAGTTTCTGAGGCCCCTGGAGCAGCGGCGGGCACAGGGCAAGCTCTTCCAG c.900
R L F Q F L R P L E Q R R A Q G K L F Q p.300
. . | 09 . . . . g.13496
ATGGTCACTATCGACCAGCTCAAG | GAAATGGCCCCCGCCATCGACTGGTTGTCCTGCTTG c.960
M V T I D Q L K | E M A P A I D W L S C L p.320
. . . . . . g.13556
CAAGCGACATTCACACCGATGTCCCTGAGCCCTTCTCAGTCCCTCGTGGTCCATGACGTG c.1020
Q A T F T P M S L S P S Q S L V V H D V p.340
. . . . . | 10 . g.14785
GAATATTTGAAAAACATGTCACAACTGGTGGAGGAGATGCTGCTAAAGCAGAG | GGACTTT c.1080
E Y L K N M S Q L V E E M L L K Q R | D F p.360
. . . . . . g.14845
CTGCAGAGCCACATGATCTTAGGGCTGGTGGTGACCCTTTCTCCAGCCCTGGACAGTCAA c.1140
L Q S H M I L G L V V T L S P A L D S Q p.380
. . . . . . g.14905
TTCCAGGAGGCACGCAGAAAGCTCAGCCAGAAACTGCGGGAACTGACAGAGCAACCACCC c.1200
F Q E A R R K L S Q K L R E L T E Q P P p.400
| 11 . . . . . . g.21156
ATG | CCTGCCCGCCCACGATGGATGAAGTGCGTGGAGGAGACAGGCACGTTCTTCGAGCCC c.1260
M | P A R P R W M K C V E E T G T F F E P p.420
. . . . . | 12 . g.22681
ACGCTGGCGGCTTTGTTTGTTCGTGAGGCCTTTGGCCCGAGCACCCGAAGTGCT | GCCATG c.1320
T L A A L F V R E A F G P S T R S A | A M p.440
. . . . . . g.22741
AAATTATTCACTGCGATCCGGGATGCCCTCATCACTCGCCTCAGAAACCTTCCCTGGATG c.1380
K L F T A I R D A L I T R L R N L P W M p.460
. . . | 13 . . . g.23043
AATGAGGAGACCCAGAACATGGCCCAGGACAAG | GTTGCTCAACTGCAGGTGGAGATGGGG c.1440
N E E T Q N M A Q D K | V A Q L Q V E M G p.480
. . . . . | 14 . g.23542
GCTTCAGAATGGGCCCTGAAGCCAGAGCTGGCCCGACAAGAATACAACGAT | ATACAGCTT c.1500
A S E W A L K P E L A R Q E Y N D | I Q L p.500
. . . . . . g.23602
GGATCGAGCTTCCTGCAGTCTGTCCTGAGCTGTGTCCGGTCCCTCCGAGCTAGAATTGTC c.1560
G S S F L Q S V L S C V R S L R A R I V p.520
. . . | 15 . . . g.23848
CAGAGCTTCTTGCAGCCTCACCCCCAACACAG | GTGGAAGGTGTCCCCTTGGGACGTCAAT c.1620
Q S F L Q P H P Q H R | W K V S P W D V N p.540
. . . . . . g.23908
GCTTACTATTCGGTATCTGACCATGTGGTAGTCTTTCCAGCTGGACTCCTCCAACCCCCA c.1680
A Y Y S V S D H V V V F P A G L L Q P P p.560
. . | 16 . . . . g.24110
TTCTTCCACCCTGGCTATCCCAG | AGCCGTGAACTTTGGCGCTGCTGGCAGCATCATGGCC c.1740
F F H P G Y P R | A V N F G A A G S I M A p.580
. . . | 17 . . . g.24401
CACGAGCTGTTGCACATCTTCTACCAGCTCT | TACTGCCTGGGGGCTGCCTCGCCTGTGAC c.1800
H E L L H I F Y Q L L | L P G G C L A C D p.600
. . . . . . g.24461
AACCATGCCCTCCAGGAAGCTCACCTGTGCCTGAAGCGCCATTATGCTGCCTTTCCATTA c.1860
N H A L Q E A H L C L K R H Y A A F P L p.620
. . . . . . g.24521
CCTAGCAGAACCTCCTTCAATGACTCCCTCACATTCTTAGAGAATGCTGCAGACGTTGGG c.1920
P S R T S F N D S L T F L E N A A D V G p.640
. . | 18 . . . . g.24926
GGGCTAGCCATCGCGCTGCAG | GCATACAGCAAGAGGCTGTTACGGCACCATGGGGAGACT c.1980
G L A I A L Q | A Y S K R L L R H H G E T p.660
. . . . . | 19. g.26006
GTCCTGCCCAGCCTGGACCTCAGCCCCCAGCAGATCTTCTTTCGAAGCTATGCCCAG | GTG c.2040
V L P S L D L S P Q Q I F F R S Y A Q | V p.680
. . . . . . g.26066
ATGTGTAGGAAGCCCAGCCCCCAGGACTCTCACGACACTCACAGCCCTCCACACCTCCGA c.2100
M C R K P S P Q D S H D T H S P P H L R p.700
. . . . . . g.26126
GTCCACGGGCCCCTCAGCAGCACCCCAGCCTTTGCCAGGTATTTCCGCTGTGCACGTGGT c.2160
V H G P L S S T P A F A R Y F R C A R G p.720
. . . g.26165
GCTCTCTTGAACCCCTCCAGCCGCTGCCAGCTCTGGTAA c.2199
A L L N P S S R C Q L W X p.732
. . . . . . g.26225
cttggttaccaaagatgccacagcacagaaatatcgaccaacacctccctggtcacatcc c.*60
. . . . . . g.26285
atggaatcagagcaagatttcctttctgcttctgttccaaaaataaaagctggcacttgg c.*120
. g.26303
cttccgcttgtctcttaa c.*138
(downstream sequence)
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