(used for variant description)
(last modified December 7, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_017566.3 in the KLHDC4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering KLHDC4 transcript NM_017566.3.
(upstream sequence)
. . . . g.5042
atttctgtgcgccgagctccgccccacgagcacctgtttccg c.-61
. . . . . . g.5102
agcggagagcgcgggccgttttctttcctggtgtcccgtcgcggcttgggacccggcaag c.-1
. . . . . . g.5162
ATGGGCAAGAAGGGCAAGAAGGAGAAGAAGGGCCGCGGCGCGGAGAAGACGGCCGCCAAG c.60
M G K K G K K E K K G R G A E K T A A K p.20
. . . | 02 . . g.8973
ATGGAGAAGAAGGTGTCTAAGCGCTCGCGGAAGGAGGAG | GAAGACCTGGAAGCGCTCATA c.120
M E K K V S K R S R K E E | E D L E A L I p.40
. . . . . . g.9033
GCCCATTTCCAGACACTCGATGCCAAGAGGACTCAGACTGTGGAACTTCCGTGCCCCCCA c.180
A H F Q T L D A K R T Q T V E L P C P P p.60
. | 03 . . . . . g.14564
CCCTCACCAAG | GTTAAATGCCTCCCTCTCGGTTCATCCTGAGAAAGATGAGTTAATCCTT c.240
P S P R | L N A S L S V H P E K D E L I L p.80
. . . | 04 . . . g.15730
TTTGGAGGTGAATATTTCAACGGCCAAAAA | ACTTTTTTGTATAACGAGCTCTATGTCTAC c.300
F G G E Y F N G Q K | T F L Y N E L Y V Y p.100
. . . . . . g.15790
AATACCAGAAAGGACACCTGGACCAAAGTTGACATCCCCAGTCCACCTCCGAGGCGCTGT c.360
N T R K D T W T K V D I P S P P P R R C p.120
| 05 . . . . . g.22234
GCTCACCAG | GCGGTGGTAGTGCCTCAAGGTGGCGGACAGCTGTGGGTCTTTGGAGGGGAG c.420
A H Q | A V V V P Q G G G Q L W V F G G E p.140
. . . . . . g.22294
TTTGCCTCTCCCAACGGAGAGCAGTTCTACCACTACAAGGATCTCTGGGTCCTGCATTTG c.480
F A S P N G E Q F Y H Y K D L W V L H L p.160
. . | 06 . . . . g.40382
GCCACCAAGACCTGGGAACAAGTCAA | ATCAACAGGCGGTCCTTCGGGTCGGAGTGGACAT c.540
A T K T W E Q V K | S T G G P S G R S G H p.180
. . . . . | 07 g.44069
CGGATGGTGGCCTGGAAGAGACAATTGATCCTGTTTGGTGGCTTCCATGAAAGTACACG | G c.600
R M V A W K R Q L I L F G G F H E S T R | p.200
. . . . . . g.44129
GATTACATCTACTACAACGACGTGTATGCCTTTAATCTGGACACCTTCACATGGAGCAAG c.660
D Y I Y Y N D V Y A F N L D T F T W S K p.220
. . . . . . g.44189
CTGTCCCCGTCAGGGACGGGGCCCACACCCAGATCAGGCTGCCAGATGTCCGTCACTCCC c.720
L S P S G T G P T P R S G C Q M S V T P p.240
. . . | 08 . . g.56440
CAGGGCGGCATCGTCGTCTATGGGGGCTACTCGAAACAG | AGAGTTAAGAAAGACGTGGAC c.780
Q G G I V V Y G G Y S K Q | R V K K D V D p.260
. . . . . | 09 . g.59554
AAGGGCACACGGCACTCAGACATGTTCCTGCTGAAGCCAGAGGACGGAAGAGAAG | ACAAG c.840
K G T R H S D M F L L K P E D G R E D | K p.280
. . . . . . g.59614
TGGGTTTGGACTCGGATGAACCCTTCGGGGGTCAAGCCCACCCCACGGTCTGGCTTTTCC c.900
W V W T R M N P S G V K P T P R S G F S p.300
. . . . . . g.59674
GTGGCCATGGCCCCGAATCACCAGACACTGTTCTTCGGGGGTGTCTGTGACGAGGAAGAG c.960
V A M A P N H Q T L F F G G V C D E E E p.320
. . . . . . g.59734
GAGGAGAGCCTGTCGGGCGAGTTCTTCAACGATCTGTACTTCTACGACGCCACCAGGAAC c.1020
E E S L S G E F F N D L Y F Y D A T R N p.340
. . | 10 . . . . g.61361
CGTTGGTTTGAGGGACAGCTGAAG | GGACCCAAGTCTGAAAAGAAGAAACGCAGGCGGGGC c.1080
R W F E G Q L K | G P K S E K K K R R R G p.360
. . . . . . g.61421
AGAAAAGAGGAGCCCGAAGGTGGTAGCAGGCCGGCGTGTGGGGGAGCTGGCACCCAGGGG c.1140
R K E E P E G G S R P A C G G A G T Q G p.380
. . . . . . g.61481
CCTGTGCAGCTGGTCAAGGAGGTGGTGGCCGAGGATGGCACCGTGGTCACCATTAAGCAG c.1200
P V Q L V K E V V A E D G T V V T I K Q p.400
. . . . . . g.61541
GTGCTCACCGCGCCAGGCTCGGCGGGGCAGCCCCGGTCTGAGGACGAAGACAGCCTTGAG c.1260
V L T A P G S A G Q P R S E D E D S L E p.420
. . . . . . g.61601
GAGGCCGGCAGCCCCGCACCTGGGCCGTGTCCACGCTCCAACGCCATGCTGGCTGTGAAG c.1320
E A G S P A P G P C P R S N A M L A V K p.440
. . . . . . g.61661
CATGGGGTGCTCTACGTCTATGGGGGCATGTTTGAGGCCGGCGACCGCCAGGTCACCCTC c.1380
H G V L Y V Y G G M F E A G D R Q V T L p.460
. . . . . . g.61721
AGCGACCTGCACTGCCTGGACCTGCACAGGATGGAGGCGTGGAAGGCCTTGGTGGAGATG c.1440
S D L H C L D L H R M E A W K A L V E M p.480
| 11. . . . . . g.62579
GACCCAG | AAACTCAGGAGTGGCTGGAGGAGACGGACTCGGAAGAGGACAGTGAGGAGGTT c.1500
D P E | T Q E W L E E T D S E E D S E E V p.500
. . . . . . g.62639
GAGGGCGCCGAGGGTGGGGTCGACGACGAAGACAGCGGAGAGGAGAGCGGTGCGGAGGAC c.1560
E G A E G G V D D E D S G E E S G A E D p.520
g.62642
TGA | c.1564
X p.520
| 12 . . . . . . g.62976
g | aagagcccctgccaggggcgcctggcaagtgctgtgcccacgtccgcccaggacccagc c.*60
. . . . . . g.63036
cgtgttgagtgaagctcttggggccagcgtgcgtcctgacgcacaggagagagctgaagg c.*120
. . . . . . g.63096
tgggtggcccaggccagggtgtgaactttctcccatggtttagtctctgacgcggcactg c.*180
. . . . . . g.63156
ggccggaagttcaactgagtgcagtgcaggtggattccctcagcagcctgtgtgttgtgt c.*240
. . g.63181
gaaataaattggacttgaaacaaga c.*265
(downstream sequence)
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