Canonical Allele Identifier: CA2744617701
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042983del , CM000663.2:g.94042983del GRCh38
NC_000001.10:g.94508539del , CM000663.1:g.94508539del GRCh37
NC_000001.9:g.94281127del NCBI36
NG_009073.1:g.83167del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3191-85del MANE Select ENSP00000359245.3:n.3191-85del
ENST00000370225.3:c.3191-85del ENSP00000359245.3:n.3191-85del
ENST00000536513.5:c.-64-2894del ENSP00000439707.2:n.-64-2894del
NM_000350.2:c.3191-85del NP_000341.2:n.3191-85del
NM_000350.3:c.3191-85del MANE Select NP_000341.2:n.3191-85del