Canonical Allele Identifier: CA2837995445
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056601dup , CM000663.2:g.94056601dup GRCh38
NC_000001.10:g.94522157dup , CM000663.1:g.94522157dup GRCh37
NC_000001.9:g.94294745dup NCBI36
NG_009073.1:g.69550dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+1dup
ENST00000649773.1:c.2161-1285dup ENSP00000496882.1:n.2161-1285dup
ENST00000370225.3:c.2382+1dup
ENST00000536513.5:c.-65+6574dup ENSP00000439707.2:n.-65+6574dup
NM_000350.2:c.2382+1dup
NM_000350.3:c.2382+1dup