Canonical Allele Identifier: CA2744617841

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043526dup , CM000663.2:g.94043526dup	GRCh38
NC_000001.10:g.94509082dup , CM000663.1:g.94509082dup	GRCh37
NC_000001.9:g.94281670dup	NCBI36
NG_009073.1:g.82624dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-51dup MANE Select	ENSP00000359245.3:n.3051-51dup
ENST00000370225.3:c.3051-51dup	ENSP00000359245.3:n.3051-51dup
ENST00000536513.5:c.-64-3437dup	ENSP00000439707.2:n.-64-3437dup
NM_000350.2:c.3051-51dup	NP_000341.2:n.3051-51dup
NM_000350.3:c.3051-51dup MANE Select	NP_000341.2:n.3051-51dup