Canonical Allele Identifier: CA933343464

Gene: HTRA1

Linked Data

• dbSNP Id: rs2097486506
• gnomAD v3: 10-122472366-TTAC-T
• gnomAD v4: 10-122472366-TTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122472369_122472371del , CM000672.2:g.122472369_122472371del	GRCh38
NC_000010.10:g.124231885_124231887del , CM000672.1:g.124231885_124231887del	GRCh37
NC_000010.9:g.124221875_124221877del	NCBI36
NG_011554.1:g.15845_15847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.472+10245_472+10247del MANE Select	ENSP00000357980.3:n.472+10245_472+10247del
ENST00000648167.1:c.154+13660_154+13662del	ENSP00000498033.1:n.154+13660_154+13662del
ENST00000368984.7:c.472+10245_472+10247del	ENSP00000357980.3:n.472+10245_472+10247del
NM_002775.4:c.472+10245_472+10247del	NP_002766.1:n.472+10245_472+10247del
NM_002775.5:c.472+10245_472+10247del MANE Select	NP_002766.1:n.472+10245_472+10247del