Canonical Allele Identifier: CA2611239233

Gene: HTRA1

Linked Data

• gnomAD v4: 10-122461760-GTGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461761_122461765del , CM000672.2:g.122461761_122461765del	GRCh38
NC_000010.10:g.124221277_124221281del , CM000672.1:g.124221277_124221281del	GRCh37
NC_000010.9:g.124211267_124211271del	NCBI36
NG_011554.1:g.5237_5241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.109_113del MANE Select	ENSP00000357980.3:p.Cys37ArgfsTer?
ENST00000648167.1:c.154+3052_154+3056del	ENSP00000498033.1:n.154+3052_154+3056del
ENST00000368984.7:c.109_113del	ENSP00000357980.3:p.Cys37ArgfsTer?
NM_002775.4:c.109_113del	NP_002766.1:p.Cys37ArgfsTer?
NM_002775.5:c.109_113del MANE Select	NP_002766.1:p.Cys37ArgfsTer?