Canonical Allele Identifier: CA913291654
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v2: 1-94506664-GGTGGCGAGAGCCT-G
gnomAD v4: 1-94041108-GGTGGCGAGAGCCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041112_94041124del , CM000663.2:g.94041112_94041124del GRCh38
NC_000001.10:g.94506668_94506680del , CM000663.1:g.94506668_94506680del GRCh37
NC_000001.9:g.94279256_94279268del NCBI36
NG_009073.1:g.85029_85041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+88_3522+100del MANE Select ENSP00000359245.3:n.3522+88_3522+100del
ENST00000370225.3:c.3522+88_3522+100del ENSP00000359245.3:n.3522+88_3522+100del
ENST00000536513.5:c.-64-1032_-64-1020del ENSP00000439707.2:n.-64-1032_-64-1020del
NM_000350.2:c.3522+88_3522+100del NP_000341.2:n.3522+88_3522+100del
NM_000350.3:c.3522+88_3522+100del MANE Select NP_000341.2:n.3522+88_3522+100del
Search 100 bp 5'
Search 100 bp 3'