Canonical Allele Identifier: CA2744619345

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062888_94062889insA , CM000663.2:g.94062888_94062889insA	GRCh38
NC_000001.10:g.94528444_94528445insA , CM000663.1:g.94528444_94528445insA	GRCh37
NC_000001.9:g.94301032_94301033insA	NCBI36
NG_009073.1:g.63261_63262insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-136_1761-135insT MANE Select	ENSP00000359245.3:n.1761-136_1761-135insT
ENST00000649773.1:c.1761-136_1761-135insT	ENSP00000496882.1:n.1761-136_1761-135insT
ENST00000370225.3:c.1761-136_1761-135insT	ENSP00000359245.3:n.1761-136_1761-135insT
ENST00000536513.5:c.-65+285_-65+286insT	ENSP00000439707.2:n.-65+285_-65+286insT
NM_000350.2:c.1761-136_1761-135insT	NP_000341.2:n.1761-136_1761-135insT
NM_000350.3:c.1761-136_1761-135insT MANE Select	NP_000341.2:n.1761-136_1761-135insT