Canonical Allele Identifier: CA524384463
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1164254609
gnomAD v2: 1-94508867-CCT-C
gnomAD v3: 1-94043311-CCT-C
gnomAD v4: 1-94043311-CCT-C
MyVariant Identifiers: chr1:g.94508868_94508869del (hg19) chr1:g.94043312_94043313del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043312_94043313del , CM000663.2:g.94043312_94043313del GRCh38
NC_000001.10:g.94508868_94508869del , CM000663.1:g.94508868_94508869del GRCh37
NC_000001.9:g.94281456_94281457del NCBI36
NG_009073.1:g.82837_82838del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3190+23_3190+24del MANE Select ENSP00000359245.3:n.3190+23_3190+24del
ENST00000370225.3:c.3190+23_3190+24del ENSP00000359245.3:n.3190+23_3190+24del
ENST00000536513.5:c.-64-3224_-64-3223del ENSP00000439707.2:n.-64-3224_-64-3223del
NM_000350.2:c.3190+23_3190+24del NP_000341.2:n.3190+23_3190+24del
NM_000350.3:c.3190+23_3190+24del MANE Select NP_000341.2:n.3190+23_3190+24del
Search 100 bp 5'
Search 100 bp 3'