Canonical Allele Identifier: CA2646646382
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94011222-ACCCAGGG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011227_94011233del , CM000663.2:g.94011227_94011233del GRCh38
NC_000001.10:g.94476783_94476789del , CM000663.1:g.94476783_94476789del GRCh37
NC_000001.9:g.94249371_94249377del NCBI36
NG_009073.1:g.114921_114927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5584+33_5584+39del MANE Select ENSP00000359245.3:n.5584+33_5584+39del
ENST00000370225.3:c.5584+33_5584+39del ENSP00000359245.3:n.5584+33_5584+39del
ENST00000536513.5:c.1960+33_1960+39del ENSP00000439707.2:n.1960+33_1960+39del
NM_000350.2:c.5584+33_5584+39del NP_000341.2:n.5584+33_5584+39del
NM_000350.3:c.5584+33_5584+39del MANE Select NP_000341.2:n.5584+33_5584+39del
Search 100 bp 5'
Search 100 bp 3'