Canonical Allele Identifier: CA2838267768

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046834dup , CM000663.2:g.94046834dup	GRCh38
NC_000001.10:g.94512390dup , CM000663.1:g.94512390dup	GRCh37
NC_000001.9:g.94284978dup	NCBI36
NG_009073.1:g.79318dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2918+87dup MANE Select	ENSP00000359245.3:n.2918+87dup
ENST00000649773.1:c.2696+87dup	ENSP00000496882.1:n.2696+87dup
ENST00000370225.3:c.2918+87dup	ENSP00000359245.3:n.2918+87dup
ENST00000536513.5:c.-64-6743dup	ENSP00000439707.2:n.-64-6743dup
NM_000350.2:c.2918+87dup	NP_000341.2:n.2918+87dup
NM_000350.3:c.2918+87dup MANE Select	NP_000341.2:n.2918+87dup