Canonical Allele Identifier: CA2646649035
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94041524-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041527del , CM000663.2:g.94041527del GRCh38
NC_000001.10:g.94507083del , CM000663.1:g.94507083del GRCh37
NC_000001.9:g.94279671del NCBI36
NG_009073.1:g.84625del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-123del MANE Select ENSP00000359245.3:n.3329-123del
ENST00000370225.3:c.3329-123del ENSP00000359245.3:n.3329-123del
ENST00000536513.5:c.-64-1436del ENSP00000439707.2:n.-64-1436del
NM_000350.2:c.3329-123del NP_000341.2:n.3329-123del
NM_000350.3:c.3329-123del MANE Select NP_000341.2:n.3329-123del
Search 100 bp 5'
Search 100 bp 3'