Canonical Allele Identifier: CA2550303011
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111850dup , CM000663.2:g.94111850dup GRCh38
NC_000001.10:g.94577406dup , CM000663.1:g.94577406dup GRCh37
NC_000001.9:g.94349994dup NCBI36
NG_009073.1:g.14305dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-266dup MANE Select ENSP00000359245.3:n.161-266dup
ENST00000649773.1:c.161-266dup ENSP00000496882.1:n.161-266dup
ENST00000370225.3:c.161-266dup ENSP00000359245.3:n.161-266dup
NM_000350.2:c.161-266dup NP_000341.2:n.161-266dup
NM_000350.3:c.161-266dup MANE Select NP_000341.2:n.161-266dup