Canonical Allele Identifier: CA501163
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 283573
ClinVar RCV Id: RCV000497773 RCV000504933 RCV000416441 RCV000678515 RCV001074704 RCV001542553 RCV002480011
dbSNP Id: rs749526785
ExAC: 1:94463397 GTGCCCCAGGGCCAAC / G
gnomAD v2: 1-94463397-GTGCCCCAGGGCCAAC-G
gnomAD v3: 1-93997841-GTGCCCCAGGGCCAAC-G
gnomAD v4: 1-93997841-GTGCCCCAGGGCCAAC-G
MyVariant Identifiers: chr1:g.94463398_94463412del (hg19) chr1:g.93997842_93997856del (hg38)
PubMed: PMID:20554613 PMID:28041643
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997843_93997857del , CM000663.2:g.93997843_93997857del GRCh38
NC_000001.10:g.94463399_94463413del , CM000663.1:g.94463399_94463413del GRCh37
NC_000001.9:g.94235987_94236001del NCBI36
NG_009073.1:g.128294_128308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+5_6729+19del MANE Select ENSP00000359245.3:n.6729+5_6729+19del
ENST00000370225.3:c.6729+5_6729+19del ENSP00000359245.3:n.6729+5_6729+19del
ENST00000536513.5:c.3105+5_3105+19del ENSP00000439707.2:n.3105+5_3105+19del
NM_000350.2:c.6729+5_6729+19del NP_000341.2:n.6729+5_6729+19del
NM_000350.3:c.6729+5_6729+19del MANE Select NP_000341.2:n.6729+5_6729+19del
Search 100 bp 5'
Search 100 bp 3'