Canonical Allele Identifier: CA660871744
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1219015586

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472256_122472257del , CM000672.2:g.122472256_122472257del GRCh38
NC_000010.10:g.124231772_124231773del , CM000672.1:g.124231772_124231773del GRCh37
NC_000010.9:g.124221762_124221763del NCBI36
NG_011554.1:g.15732_15733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10132_472+10133del MANE Select ENSP00000357980.3:n.472+10132_472+10133del
ENST00000648167.1:c.154+13547_154+13548del ENSP00000498033.1:n.154+13547_154+13548del
ENST00000368984.7:c.472+10132_472+10133del ENSP00000357980.3:n.472+10132_472+10133del
NM_002775.4:c.472+10132_472+10133del NP_002766.1:n.472+10132_472+10133del
NM_002775.5:c.472+10132_472+10133del MANE Select NP_002766.1:n.472+10132_472+10133del