Canonical Allele Identifier: CA10635087
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 299043
dbSNP Id: rs541533723

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461685_122461686insTCC , CM000672.2:g.122461685_122461686insTCC GRCh38
NC_000010.10:g.124221201_124221202insTCC , CM000672.1:g.124221201_124221202insTCC GRCh37
NC_000010.9:g.124211191_124211192insTCC NCBI36
NG_011554.1:g.5161_5162insTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.33_34insTCC MANE Select ENSP00000357980.3:p.Leu11_Leu12insSer
ENST00000648167.1:c.154+2976_154+2977insTCC ENSP00000498033.1:n.154+2976_154+2977insTCC
ENST00000368984.7:c.33_34insTCC ENSP00000357980.3:p.Leu11_Leu12insSer
NM_002775.4:c.33_34insTCC NP_002766.1:p.Leu11_Leu12insSer
NM_002775.5:c.33_34insTCC MANE Select NP_002766.1:p.Leu11_Leu12insSer