Canonical Allele Identifier: CA2789780350

Gene: HTRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461989_122461990del , CM000672.2:g.122461989_122461990del	GRCh38
NC_000010.10:g.124221505_124221506del , CM000672.1:g.124221505_124221506del	GRCh37
NC_000010.9:g.124211495_124211496del	NCBI36
NG_011554.1:g.5465_5466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.337_338del MANE Select	ENSP00000357980.3:p.Ala113GlnfsTer?
ENST00000648167.1:c.154+3280_154+3281del	ENSP00000498033.1:n.154+3280_154+3281del
ENST00000368984.7:c.337_338del	ENSP00000357980.3:p.Ala113GlnfsTer?
NM_002775.4:c.337_338del	NP_002766.1:p.Ala113GlnfsTer?
NM_002775.5:c.337_338del MANE Select	NP_002766.1:p.Ala113GlnfsTer?