Canonical Allele Identifier: CA1941459659

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 1959435
• ClinVar RCV Id: RCV002701276 ; RCV003324043
• dbSNP Id: rs2097481521
• gnomAD v4: 10-122461834-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461836_122461837del , CM000672.2:g.122461836_122461837del	GRCh38
NC_000010.10:g.124221352_124221353del , CM000672.1:g.124221352_124221353del	GRCh37
NC_000010.9:g.124211342_124211343del	NCBI36
NG_011554.1:g.5312_5313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.184_185del MANE Select	ENSP00000357980.3:p.Cys62ArgfsTer?
ENST00000648167.1:c.154+3127_154+3128del	ENSP00000498033.1:n.154+3127_154+3128del
ENST00000368984.7:c.184_185del	ENSP00000357980.3:p.Cys62ArgfsTer?
NM_002775.4:c.184_185del	NP_002766.1:p.Cys62ArgfsTer?
NM_002775.5:c.184_185del MANE Select	NP_002766.1:p.Cys62ArgfsTer?