Canonical Allele Identifier: CA2744617479

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041508_94041509insACA , CM000663.2:g.94041508_94041509insACA	GRCh38
NC_000001.10:g.94507064_94507065insACA , CM000663.1:g.94507064_94507065insACA	GRCh37
NC_000001.9:g.94279652_94279653insACA	NCBI36
NG_009073.1:g.84641_84642insTGT

Transcript Alleles

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