Canonical Allele Identifier: CA2744621270

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111696_94111697insA , CM000663.2:g.94111696_94111697insA	GRCh38
NC_000001.10:g.94577252_94577253insA , CM000663.1:g.94577252_94577253insA	GRCh37
NC_000001.9:g.94349840_94349841insA	NCBI36
NG_009073.1:g.14453_14454insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-118_161-117insT MANE Select	ENSP00000359245.3:n.161-118_161-117insT
ENST00000649773.1:c.161-118_161-117insT	ENSP00000496882.1:n.161-118_161-117insT
ENST00000370225.3:c.161-118_161-117insT	ENSP00000359245.3:n.161-118_161-117insT
NM_000350.2:c.161-118_161-117insT	NP_000341.2:n.161-118_161-117insT
NM_000350.3:c.161-118_161-117insT MANE Select	NP_000341.2:n.161-118_161-117insT