Canonical Allele Identifier: CA933345350
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097504269
gnomAD v3: 10-122508722-G-GATAAGATTA
gnomAD v4: 10-122508722-G-GATAAGATTA
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508724_122508732dup , CM000672.2:g.122508724_122508732dup GRCh38
NC_000010.10:g.124268240_124268248dup , CM000672.1:g.124268240_124268248dup GRCh37
NC_000010.9:g.124258230_124258238dup NCBI36
NG_011554.1:g.52200_52208dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1074_1082dup MANE Select ENSP00000357980.3:p.Ile360_Lys361insAsnLysIle
ENST00000648167.1:c.756_764dup ENSP00000498033.1:p.Ile254_Lys255insAsnLysIle
ENST00000368984.7:c.1074_1082dup ENSP00000357980.3:p.Ile360_Lys361insAsnLysIle
ENST00000420892.1:c.297_305dup ENSP00000412676.1:p.Ile101_Lys102insAsnLysIle
NM_002775.4:c.1074_1082dup NP_002766.1:p.Ile360_Lys361insAsnLysIle
NM_002775.5:c.1074_1082dup MANE Select NP_002766.1:p.Ile360_Lys361insAsnLysIle
Search 100 bp 5'
Search 100 bp 3'