Canonical Allele Identifier: CA2789780312

Gene: HTRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461904_122461907del , CM000672.2:g.122461904_122461907del	GRCh38
NC_000010.10:g.124221420_124221423del , CM000672.1:g.124221420_124221423del	GRCh37
NC_000010.9:g.124211410_124211413del	NCBI36
NG_011554.1:g.5380_5383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.252_255del MANE Select	ENSP00000357980.3:p.Glu85GlyfsTer?
ENST00000648167.1:c.154+3195_154+3198del	ENSP00000498033.1:n.154+3195_154+3198del
ENST00000368984.7:c.252_255del	ENSP00000357980.3:p.Glu85GlyfsTer?
NM_002775.4:c.252_255del	NP_002766.1:p.Glu85GlyfsTer?
NM_002775.5:c.252_255del MANE Select	NP_002766.1:p.Glu85GlyfsTer?