Canonical Allele Identifier: CA933343308

Gene: HTRA1

Linked Data

• dbSNP Id: rs2097486309
• gnomAD v3: 10-122471982-ACTGATGTCTCCCT-A
• gnomAD v4: 10-122471982-ACTGATGTCTCCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122471983_122471995del , CM000672.2:g.122471983_122471995del	GRCh38
NC_000010.10:g.124231499_124231511del , CM000672.1:g.124231499_124231511del	GRCh37
NC_000010.9:g.124221489_124221501del	NCBI36
NG_011554.1:g.15459_15471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.472+9859_472+9871del MANE Select	ENSP00000357980.3:n.472+9859_472+9871del
ENST00000648167.1:c.154+13274_154+13286del	ENSP00000498033.1:n.154+13274_154+13286de...
ENST00000368984.7:c.472+9859_472+9871del	ENSP00000357980.3:n.472+9859_472+9871del
NM_002775.4:c.472+9859_472+9871del	NP_002766.1:n.472+9859_472+9871del
NM_002775.5:c.472+9859_472+9871del MANE Select	NP_002766.1:n.472+9859_472+9871del