Canonical Allele Identifier: CA2744619312
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062841del , CM000663.2:g.94062841del GRCh38
NC_000001.10:g.94528397del , CM000663.1:g.94528397del GRCh37
NC_000001.9:g.94300985del NCBI36
NG_009073.1:g.63309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-88del MANE Select ENSP00000359245.3:n.1761-88del
ENST00000649773.1:c.1761-88del ENSP00000496882.1:n.1761-88del
ENST00000370225.3:c.1761-88del ENSP00000359245.3:n.1761-88del
ENST00000536513.5:c.-65+333del ENSP00000439707.2:n.-65+333del
NM_000350.2:c.1761-88del NP_000341.2:n.1761-88del
NM_000350.3:c.1761-88del MANE Select NP_000341.2:n.1761-88del