Canonical Allele Identifier: CA1941467517
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472335_122472338delinsCCAT , CM000672.2:g.122472335_122472338delinsCCAT GRCh38
NC_000010.10:g.124231851_124231854delinsCCAT , CM000672.1:g.124231851_124231854delinsCCAT GRCh37
NC_000010.9:g.124221841_124221844delinsCCAT NCBI36
NG_011554.1:g.15811_15814delinsCCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10211_472+10214delinsCCAT MANE Select ENSP00000357980.3:n.472+10211_472+10214delinsCCAT
ENST00000648167.1:c.154+13626_154+13629delinsCCAT ENSP00000498033.1:n.154+13626_154+13629delinsCCAT
ENST00000368984.7:c.472+10211_472+10214delinsCCAT ENSP00000357980.3:n.472+10211_472+10214delinsCCAT
NM_002775.4:c.472+10211_472+10214delinsCCAT NP_002766.1:n.472+10211_472+10214delinsCCAT
NM_002775.5:c.472+10211_472+10214delinsCCAT MANE Select NP_002766.1:n.472+10211_472+10214delinsCCAT