Canonical Allele Identifier: CA2646647372
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021498dup , CM000663.2:g.94021498dup GRCh38
NC_000001.10:g.94487054dup , CM000663.1:g.94487054dup GRCh37
NC_000001.9:g.94259642dup NCBI36
NG_009073.1:g.104653dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-88dup MANE Select ENSP00000359245.3:n.4849-88dup
ENST00000370225.3:c.4849-88dup ENSP00000359245.3:n.4849-88dup
ENST00000460514.1:n.343-88dup
ENST00000536513.5:c.1225-88dup ENSP00000439707.2:n.1225-88dup
NM_000350.2:c.4849-88dup NP_000341.2:n.4849-88dup
NM_000350.3:c.4849-88dup MANE Select NP_000341.2:n.4849-88dup