Canonical Allele Identifier: CA2499214887
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1074771
ClinVar RCV Id: RCV001388182
dbSNP Id: rs2101034641
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030300_94030478del , CM000663.2:g.94030300_94030478del GRCh38
NC_000001.10:g.94495856_94496034del , CM000663.1:g.94495856_94496034del GRCh37
NC_000001.9:g.94268444_94268622del NCBI36
NG_009073.1:g.95672_95850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4302_4352+128del
ENST00000370225.3:c.4302_4352+128del
ENST00000536513.5:c.678_728+128del
NM_000350.2:c.4302_4352+128del
NM_000350.3:c.4302_4352+128del
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