Canonical Allele Identifier: CA2611239625
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461968_122461969insT , CM000672.2:g.122461968_122461969insT GRCh38
NC_000010.10:g.124221484_124221485insT , CM000672.1:g.124221484_124221485insT GRCh37
NC_000010.9:g.124211474_124211475insT NCBI36
NG_011554.1:g.5444_5445insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.316_317insT MANE Select ENSP00000357980.3:p.Gln106LeufsTer?
ENST00000648167.1:c.154+3259_154+3260insT ENSP00000498033.1:n.154+3259_154+3260insT
ENST00000368984.7:c.316_317insT ENSP00000357980.3:p.Gln106LeufsTer?
NM_002775.4:c.316_317insT NP_002766.1:p.Gln106LeufsTer?
NM_002775.5:c.316_317insT MANE Select NP_002766.1:p.Gln106LeufsTer?