Canonical Allele Identifier: CA2601992061
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v3: 1-94041511-ACT-A
gnomAD v4: 1-94041511-ACT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041512_94041513del , CM000663.2:g.94041512_94041513del GRCh38
NC_000001.10:g.94507068_94507069del , CM000663.1:g.94507068_94507069del GRCh37
NC_000001.9:g.94279656_94279657del NCBI36
NG_009073.1:g.84637_84638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-111_3329-110del MANE Select ENSP00000359245.3:n.3329-111_3329-110del
ENST00000370225.3:c.3329-111_3329-110del ENSP00000359245.3:n.3329-111_3329-110del
ENST00000536513.5:c.-64-1424_-64-1423del ENSP00000439707.2:n.-64-1424_-64-1423del
NM_000350.2:c.3329-111_3329-110del NP_000341.2:n.3329-111_3329-110del
NM_000350.3:c.3329-111_3329-110del MANE Select NP_000341.2:n.3329-111_3329-110del
Search 100 bp 5'
Search 100 bp 3'