Canonical Allele Identifier: CA645521474
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM5508259 COSM5508260
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062582_94062585del , CM000663.2:g.94062582_94062585del GRCh38
NC_000001.10:g.94528138_94528141del , CM000663.1:g.94528138_94528141del GRCh37
NC_000001.9:g.94300726_94300729del NCBI36
NG_009073.1:g.63566_63569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1930_1933del MANE Select ENSP00000359245.3:p.Asp644IlefsTer4
ENST00000649773.1:c.1930_1933del ENSP00000496882.1:p.Asp644IlefsTer4
ENST00000370225.3:c.1930_1933del ENSP00000359245.3:p.Asp644IlefsTer4
ENST00000536513.5:c.-65+590_-65+593del ENSP00000439707.2:n.-65+590_-65+593del
NM_000350.2:c.1930_1933del NP_000341.2:p.Asp644IlefsTer4
NM_000350.3:c.1930_1933del MANE Select NP_000341.2:p.Asp644IlefsTer4
Search 100 bp 5'
Search 100 bp 3'