Canonical Allele Identifier: CA2589174862

Gene: HTRA1

Linked Data

• dbSNP Id: rs2133911299
• gnomAD v3: 10-122472203-TTCTC-T
• gnomAD v4: 10-122472203-TTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122472207_122472210del , CM000672.2:g.122472207_122472210del	GRCh38
NC_000010.10:g.124231723_124231726del , CM000672.1:g.124231723_124231726del	GRCh37
NC_000010.9:g.124221713_124221716del	NCBI36
NG_011554.1:g.15683_15686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.472+10083_472+10086del MANE Select	ENSP00000357980.3:n.472+10083_472+10086del
ENST00000648167.1:c.154+13498_154+13501del	ENSP00000498033.1:n.154+13498_154+13501del
ENST00000368984.7:c.472+10083_472+10086del	ENSP00000357980.3:n.472+10083_472+10086del
NM_002775.4:c.472+10083_472+10086del	NP_002766.1:n.472+10083_472+10086del
NM_002775.5:c.472+10083_472+10086del MANE Select	NP_002766.1:n.472+10083_472+10086del