Canonical Allele Identifier: CA2586966945

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043421del , CM000663.2:g.94043421del	GRCh38
NC_000001.10:g.94508977del , CM000663.1:g.94508977del	GRCh37
NC_000001.9:g.94281565del	NCBI36
NG_009073.1:g.82730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3106del MANE Select	ENSP00000359245.3:p.Glu1036ArgfsTer?
ENST00000370225.3:c.3106del	ENSP00000359245.3:p.Glu1036ArgfsTer?
ENST00000536513.5:c.-64-3331del	ENSP00000439707.2:n.-64-3331del
NM_000350.2:c.3106del	NP_000341.2:p.Glu1036ArgfsTer?
NM_000350.3:c.3106del MANE Select	NP_000341.2:p.Glu1036ArgfsTer?