Canonical Allele Identifier: CA2744614508

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011402_94011403insAGA , CM000663.2:g.94011402_94011403insAGA	GRCh38
NC_000001.10:g.94476958_94476959insAGA , CM000663.1:g.94476958_94476959insAGA	GRCh37
NC_000001.9:g.94249546_94249547insAGA	NCBI36
NG_009073.1:g.114747_114748insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5461-18_5461-17insTCT MANE Select	ENSP00000359245.3:n.5461-18_5461-17insTCT
ENST00000370225.3:c.5461-18_5461-17insTCT	ENSP00000359245.3:n.5461-18_5461-17insTCT
ENST00000536513.5:c.1837-18_1837-17insTCT	ENSP00000439707.2:n.1837-18_1837-17insTCT
NM_000350.2:c.5461-18_5461-17insTCT	NP_000341.2:n.5461-18_5461-17insTCT
NM_000350.3:c.5461-18_5461-17insTCT MANE Select	NP_000341.2:n.5461-18_5461-17insTCT