Canonical Allele Identifier: CA2744619346

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062889_94062890insACA , CM000663.2:g.94062889_94062890insACA	GRCh38
NC_000001.10:g.94528445_94528446insACA , CM000663.1:g.94528445_94528446insACA	GRCh37
NC_000001.9:g.94301033_94301034insACA	NCBI36
NG_009073.1:g.63260_63261insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-137_1761-136insTGT MANE Select	ENSP00000359245.3:n.1761-137_1761-136insTGT
ENST00000649773.1:c.1761-137_1761-136insTGT	ENSP00000496882.1:n.1761-137_1761-136insTGT
ENST00000370225.3:c.1761-137_1761-136insTGT	ENSP00000359245.3:n.1761-137_1761-136insTGT
ENST00000536513.5:c.-65+284_-65+285insTGT	ENSP00000439707.2:n.-65+284_-65+285insTGT
NM_000350.2:c.1761-137_1761-136insTGT	NP_000341.2:n.1761-137_1761-136insTGT
NM_000350.3:c.1761-137_1761-136insTGT MANE Select	NP_000341.2:n.1761-137_1761-136insTGT