Canonical Allele Identifier: CA2744619117

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060828_94060830del , CM000663.2:g.94060828_94060830del	GRCh38
NC_000001.10:g.94526384_94526386del , CM000663.1:g.94526384_94526386del	GRCh37
NC_000001.9:g.94298972_94298974del	NCBI36
NG_009073.1:g.65323_65325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-68_1938-66del MANE Select	ENSP00000359245.3:n.1938-68_1938-66del
ENST00000649773.1:c.1938-68_1938-66del	ENSP00000496882.1:n.1938-68_1938-66del
ENST00000370225.3:c.1938-68_1938-66del	ENSP00000359245.3:n.1938-68_1938-66del
ENST00000472033.1:n.58-68_58-66del
ENST00000536513.5:c.-65+2347_-65+2349del	ENSP00000439707.2:n.-65+2347_-65+2349del
NM_000350.2:c.1938-68_1938-66del	NP_000341.2:n.1938-68_1938-66del
NM_000350.3:c.1938-68_1938-66del MANE Select	NP_000341.2:n.1938-68_1938-66del