Canonical Allele Identifier: CA2837995444

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031809dup , CM000663.2:g.94031809dup	GRCh38
NC_000001.10:g.94497365dup , CM000663.1:g.94497365dup	GRCh37
NC_000001.9:g.94269953dup	NCBI36
NG_009073.1:g.94342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4098dup MANE Select	ENSP00000359245.3:p.Ile1367HisfsTer?
ENST00000370225.3:c.4098dup	ENSP00000359245.3:p.Ile1367HisfsTer?
ENST00000536513.5:c.474dup	ENSP00000439707.2:p.Ile159HisfsTer?
NM_000350.2:c.4098dup	NP_000341.2:p.Ile1367HisfsTer?
NM_000350.3:c.4098dup MANE Select	NP_000341.2:p.Ile1367HisfsTer?