Canonical Allele Identifier: CA916237583

Gene: ABCA4

Linked Data

• dbSNP Id: rs1557786452

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060819_94060822del , CM000663.2:g.94060819_94060822del	GRCh38
NC_000001.10:g.94526375_94526378del , CM000663.1:g.94526375_94526378del	GRCh37
NC_000001.9:g.94298963_94298966del	NCBI36
NG_009073.1:g.65331_65334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-60_1938-57del MANE Select	ENSP00000359245.3:n.1938-60_1938-57del
ENST00000649773.1:c.1938-60_1938-57del	ENSP00000496882.1:n.1938-60_1938-57del
ENST00000370225.3:c.1938-60_1938-57del	ENSP00000359245.3:n.1938-60_1938-57del
ENST00000472033.1:n.58-60_58-57del
ENST00000536513.5:c.-65+2355_-65+2358del	ENSP00000439707.2:n.-65+2355_-65+2358del
NM_000350.2:c.1938-60_1938-57del	NP_000341.2:n.1938-60_1938-57del
NM_000350.3:c.1938-60_1938-57del MANE Select	NP_000341.2:n.1938-60_1938-57del