Canonical Allele Identifier: CA2744616606

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030665_94030666insAGA , CM000663.2:g.94030665_94030666insAGA	GRCh38
NC_000001.10:g.94496221_94496222insAGA , CM000663.1:g.94496221_94496222insAGA	GRCh37
NC_000001.9:g.94268809_94268810insAGA	NCBI36
NG_009073.1:g.95484_95485insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-140_4254-139insTCT MANE Select	ENSP00000359245.3:n.4254-140_4254-139insTCT
ENST00000370225.3:c.4254-140_4254-139insTCT	ENSP00000359245.3:n.4254-140_4254-139insTCT
ENST00000536513.5:c.630-140_630-139insTCT	ENSP00000439707.2:n.630-140_630-139insTCT
NM_000350.2:c.4254-140_4254-139insTCT	NP_000341.2:n.4254-140_4254-139insTCT
NM_000350.3:c.4254-140_4254-139insTCT MANE Select	NP_000341.2:n.4254-140_4254-139insTCT