Canonical Allele Identifier: CA2744619267

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062797dup , CM000663.2:g.94062797dup	GRCh38
NC_000001.10:g.94528353dup , CM000663.1:g.94528353dup	GRCh37
NC_000001.9:g.94300941dup	NCBI36
NG_009073.1:g.63353dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-44dup MANE Select	ENSP00000359245.3:n.1761-44dup
ENST00000649773.1:c.1761-44dup	ENSP00000496882.1:n.1761-44dup
ENST00000370225.3:c.1761-44dup	ENSP00000359245.3:n.1761-44dup
ENST00000536513.5:c.-65+377dup	ENSP00000439707.2:n.-65+377dup
NM_000350.2:c.1761-44dup	NP_000341.2:n.1761-44dup
NM_000350.3:c.1761-44dup MANE Select	NP_000341.2:n.1761-44dup