Canonical Allele Identifier: CA2586966939

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056806del , CM000663.2:g.94056806del	GRCh38
NC_000001.10:g.94522362del , CM000663.1:g.94522362del	GRCh37
NC_000001.9:g.94294950del	NCBI36
NG_009073.1:g.69344del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2177del MANE Select	ENSP00000359245.3:p.His726LeufsTer?
ENST00000649773.1:c.2161-1491del	ENSP00000496882.1:n.2161-1491del
ENST00000370225.3:c.2177del	ENSP00000359245.3:p.His726LeufsTer?
ENST00000536513.5:c.-65+6368del	ENSP00000439707.2:n.-65+6368del
NM_000350.2:c.2177del	NP_000341.2:p.His726LeufsTer?
NM_000350.3:c.2177del MANE Select	NP_000341.2:p.His726LeufsTer?