Canonical Allele Identifier: CA916237261

Gene: ABCA4

Linked Data

• dbSNP Id: rs1553188658

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021734dup , CM000663.2:g.94021734dup	GRCh38
NC_000001.10:g.94487290dup , CM000663.1:g.94487290dup	GRCh37
NC_000001.9:g.94259878dup	NCBI36
NG_009073.1:g.104418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4774-18dup MANE Select	ENSP00000359245.3:n.4774-18dup
ENST00000370225.3:c.4774-18dup	ENSP00000359245.3:n.4774-18dup
ENST00000460514.1:n.268-18dup
ENST00000536513.5:c.1150-18dup	ENSP00000439707.2:n.1150-18dup
NM_000350.2:c.4774-18dup	NP_000341.2:n.4774-18dup
NM_000350.3:c.4774-18dup MANE Select	NP_000341.2:n.4774-18dup