Canonical Allele Identifier: CA2744619261

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062788_94062801del , CM000663.2:g.94062788_94062801del	GRCh38
NC_000001.10:g.94528344_94528357del , CM000663.1:g.94528344_94528357del	GRCh37
NC_000001.9:g.94300932_94300945del	NCBI36
NG_009073.1:g.63349_63362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-48_1761-35del MANE Select	ENSP00000359245.3:n.1761-48_1761-35del
ENST00000649773.1:c.1761-48_1761-35del	ENSP00000496882.1:n.1761-48_1761-35del
ENST00000370225.3:c.1761-48_1761-35del	ENSP00000359245.3:n.1761-48_1761-35del
ENST00000536513.5:c.-65+373_-65+386del	ENSP00000439707.2:n.-65+373_-65+386del
NM_000350.2:c.1761-48_1761-35del	NP_000341.2:n.1761-48_1761-35del
NM_000350.3:c.1761-48_1761-35del MANE Select	NP_000341.2:n.1761-48_1761-35del