Canonical Allele Identifier: CA1941478095

Gene: HTRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508640_122508643delinsCCTT , CM000672.2:g.122508640_122508643delinsCCTT	GRCh38
NC_000010.10:g.124268156_124268159delinsCCTT , CM000672.1:g.124268156_124268159delinsCCTT	GRCh37
NC_000010.9:g.124258146_124258149delinsCCTT	NCBI36
NG_011554.1:g.52116_52119delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1006-16_1006-13delinsCCTT MANE Select	ENSP00000357980.3:n.1006-16_1006-13delinsCCTT
ENST00000648167.1:c.688-16_688-13delinsCCTT	ENSP00000498033.1:n.688-16_688-13delinsCCTT
ENST00000368984.7:c.1006-16_1006-13delinsCCTT	ENSP00000357980.3:n.1006-16_1006-13delinsCCTT
ENST00000420892.1:c.229-16_229-13delinsCCTT	ENSP00000412676.1:n.229-16_229-13delinsCCTT
NM_002775.4:c.1006-16_1006-13delinsCCTT	NP_002766.1:n.1006-16_1006-13delinsCCTT
NM_002775.5:c.1006-16_1006-13delinsCCTT MANE Select	NP_002766.1:n.1006-16_1006-13delinsCCTT