Canonical Allele Identifier: CA1181422699

Gene: ABCA4

Linked Data

• dbSNP Id: rs1660710461

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047187del , CM000663.2:g.94047187del	GRCh38
NC_000001.10:g.94512743del , CM000663.1:g.94512743del	GRCh37
NC_000001.9:g.94285331del	NCBI36
NG_009073.1:g.78963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-94del MANE Select	ENSP00000359245.3:n.2744-94del
ENST00000649773.1:c.2522-94del	ENSP00000496882.1:n.2522-94del
ENST00000370225.3:c.2744-94del	ENSP00000359245.3:n.2744-94del
ENST00000536513.5:c.-64-7098del	ENSP00000439707.2:n.-64-7098del
NM_000350.2:c.2744-94del	NP_000341.2:n.2744-94del
NM_000350.3:c.2744-94del MANE Select	NP_000341.2:n.2744-94del