Canonical Allele Identifier: CA916237259

Gene: ABCA4

Linked Data

• dbSNP Id: rs869238169

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021731del , CM000663.2:g.94021731del	GRCh38
NC_000001.10:g.94487287del , CM000663.1:g.94487287del	GRCh37
NC_000001.9:g.94259875del	NCBI36
NG_009073.1:g.104419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4774-17del MANE Select	ENSP00000359245.3:n.4774-17del
ENST00000370225.3:c.4774-17del	ENSP00000359245.3:n.4774-17del
ENST00000460514.1:n.268-17del
ENST00000536513.5:c.1150-17del	ENSP00000439707.2:n.1150-17del
NM_000350.2:c.4774-17del	NP_000341.2:n.4774-17del
NM_000350.3:c.4774-17del MANE Select	NP_000341.2:n.4774-17del