Canonical Allele Identifier: CA1181434732
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs750289373
gnomAD v4: 1-94079242-ATC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079249_94079250del , CM000663.2:g.94079249_94079250del GRCh38
NC_000001.10:g.94544805_94544806del , CM000663.1:g.94544805_94544806del GRCh37
NC_000001.9:g.94317393_94317394del NCBI36
NG_009073.1:g.46906_46907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1239+78_1239+79del MANE Select ENSP00000359245.3:n.1239+78_1239+79del
ENST00000649773.1:c.1239+78_1239+79del ENSP00000496882.1:n.1239+78_1239+79del
ENST00000370225.3:c.1239+78_1239+79del ENSP00000359245.3:n.1239+78_1239+79del
NM_000350.2:c.1239+78_1239+79del NP_000341.2:n.1239+78_1239+79del
NM_000350.3:c.1239+78_1239+79del MANE Select NP_000341.2:n.1239+78_1239+79del
Search 100 bp 5'
Search 100 bp 3'