Canonical Allele Identifier: CA2744617481

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041508_94041509insA , CM000663.2:g.94041508_94041509insA	GRCh38
NC_000001.10:g.94507064_94507065insA , CM000663.1:g.94507064_94507065insA	GRCh37
NC_000001.9:g.94279652_94279653insA	NCBI36
NG_009073.1:g.84641_84642insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-107_3329-106insT MANE Select	ENSP00000359245.3:n.3329-107_3329-106insT
ENST00000370225.3:c.3329-107_3329-106insT	ENSP00000359245.3:n.3329-107_3329-106insT
ENST00000536513.5:c.-64-1420_-64-1419insT	ENSP00000439707.2:n.-64-1420_-64-1419insT
NM_000350.2:c.3329-107_3329-106insT	NP_000341.2:n.3329-107_3329-106insT
NM_000350.3:c.3329-107_3329-106insT MANE Select	NP_000341.2:n.3329-107_3329-106insT