Canonical Allele Identifier: CA2646648719
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041105dup , CM000663.2:g.94041105dup GRCh38
NC_000001.10:g.94506661dup , CM000663.1:g.94506661dup GRCh37
NC_000001.9:g.94279249dup NCBI36
NG_009073.1:g.85046dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+105dup MANE Select ENSP00000359245.3:n.3522+105dup
ENST00000370225.3:c.3522+105dup ENSP00000359245.3:n.3522+105dup
ENST00000536513.5:c.-64-1015dup ENSP00000439707.2:n.-64-1015dup
NM_000350.2:c.3522+105dup NP_000341.2:n.3522+105dup
NM_000350.3:c.3522+105dup MANE Select NP_000341.2:n.3522+105dup