Canonical Allele Identifier: CA2744617521

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041525_94041526insAGA , CM000663.2:g.94041525_94041526insAGA	GRCh38
NC_000001.10:g.94507081_94507082insAGA , CM000663.1:g.94507081_94507082insAGA	GRCh37
NC_000001.9:g.94279669_94279670insAGA	NCBI36
NG_009073.1:g.84624_84625insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-124_3329-123insTCT MANE Select	ENSP00000359245.3:n.3329-124_3329-123insTCT
ENST00000370225.3:c.3329-124_3329-123insTCT	ENSP00000359245.3:n.3329-124_3329-123insTCT
ENST00000536513.5:c.-64-1437_-64-1436insTCT	ENSP00000439707.2:n.-64-1437_-64-1436insTCT
NM_000350.2:c.3329-124_3329-123insTCT	NP_000341.2:n.3329-124_3329-123insTCT
NM_000350.3:c.3329-124_3329-123insTCT MANE Select	NP_000341.2:n.3329-124_3329-123insTCT