Canonical Allele Identifier: CA2744619171

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060872_94060883del , CM000663.2:g.94060872_94060883del	GRCh38
NC_000001.10:g.94526428_94526439del , CM000663.1:g.94526428_94526439del	GRCh37
NC_000001.9:g.94299016_94299027del	NCBI36
NG_009073.1:g.65267_65278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-124_1938-113del MANE Select	ENSP00000359245.3:n.1938-124_1938-113del
ENST00000649773.1:c.1938-124_1938-113del	ENSP00000496882.1:n.1938-124_1938-113del
ENST00000370225.3:c.1938-124_1938-113del	ENSP00000359245.3:n.1938-124_1938-113del
ENST00000472033.1:n.58-124_58-113del
ENST00000536513.5:c.-65+2291_-65+2302del	ENSP00000439707.2:n.-65+2291_-65+2302del
NM_000350.2:c.1938-124_1938-113del	NP_000341.2:n.1938-124_1938-113del
NM_000350.3:c.1938-124_1938-113del MANE Select	NP_000341.2:n.1938-124_1938-113del