Canonical Allele Identifier: CA2744621258

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111687_94111688insAGA , CM000663.2:g.94111687_94111688insAGA	GRCh38
NC_000001.10:g.94577243_94577244insAGA , CM000663.1:g.94577243_94577244insAGA	GRCh37
NC_000001.9:g.94349831_94349832insAGA	NCBI36
NG_009073.1:g.14462_14463insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-109_161-108insTCT MANE Select	ENSP00000359245.3:n.161-109_161-108insTCT
ENST00000649773.1:c.161-109_161-108insTCT	ENSP00000496882.1:n.161-109_161-108insTCT
ENST00000370225.3:c.161-109_161-108insTCT	ENSP00000359245.3:n.161-109_161-108insTCT
NM_000350.2:c.161-109_161-108insTCT	NP_000341.2:n.161-109_161-108insTCT
NM_000350.3:c.161-109_161-108insTCT MANE Select	NP_000341.2:n.161-109_161-108insTCT