Canonical Allele Identifier: CA1941459317
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461687_122461689delinsTGC , CM000672.2:g.122461687_122461689delinsTGC GRCh38
NC_000010.10:g.124221203_124221205delinsTGC , CM000672.1:g.124221203_124221205delinsTGC GRCh37
NC_000010.9:g.124211193_124211195delinsTGC NCBI36
NG_011554.1:g.5163_5165delinsTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.35_37delinsTGC MANE Select ENSP00000357980.3:p.Leu12=
ENST00000648167.1:c.154+2978_154+2980delinsTGC ENSP00000498033.1:n.154+2978_154+2980delinsTGC
ENST00000368984.7:c.35_37delinsTGC ENSP00000357980.3:p.Leu12=
NM_002775.4:c.35_37delinsTGC NP_002766.1:p.Leu12=
NM_002775.5:c.35_37delinsTGC MANE Select NP_002766.1:p.Leu12=