Canonical Allele Identifier: CA2789780265
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472359_122472360del , CM000672.2:g.122472359_122472360del GRCh38
NC_000010.10:g.124231875_124231876del , CM000672.1:g.124231875_124231876del GRCh37
NC_000010.9:g.124221865_124221866del NCBI36
NG_011554.1:g.15835_15836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10235_472+10236del MANE Select ENSP00000357980.3:n.472+10235_472+10236del
ENST00000648167.1:c.154+13650_154+13651del ENSP00000498033.1:n.154+13650_154+13651del
ENST00000368984.7:c.472+10235_472+10236del ENSP00000357980.3:n.472+10235_472+10236del
NM_002775.4:c.472+10235_472+10236del NP_002766.1:n.472+10235_472+10236del
NM_002775.5:c.472+10235_472+10236del MANE Select NP_002766.1:n.472+10235_472+10236del