Canonical Allele Identifier: CA2744616552

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030606_94030607insAGA , CM000663.2:g.94030606_94030607insAGA	GRCh38
NC_000001.10:g.94496162_94496163insAGA , CM000663.1:g.94496162_94496163insAGA	GRCh37
NC_000001.9:g.94268750_94268751insAGA	NCBI36
NG_009073.1:g.95543_95544insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-81_4254-80insTCT MANE Select	ENSP00000359245.3:n.4254-81_4254-80insTCT
ENST00000370225.3:c.4254-81_4254-80insTCT	ENSP00000359245.3:n.4254-81_4254-80insTCT
ENST00000536513.5:c.630-81_630-80insTCT	ENSP00000439707.2:n.630-81_630-80insTCT
NM_000350.2:c.4254-81_4254-80insTCT	NP_000341.2:n.4254-81_4254-80insTCT
NM_000350.3:c.4254-81_4254-80insTCT MANE Select	NP_000341.2:n.4254-81_4254-80insTCT