Canonical Allele Identifier: CA2499214883
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1175550
ClinVar RCV Id: RCV001530733
dbSNP Id: rs2101023701
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021731_94021732delinsAC , CM000663.2:g.94021731_94021732delinsAC GRCh38
NC_000001.10:g.94487287_94487288delinsAC , CM000663.1:g.94487287_94487288delinsAC GRCh37
NC_000001.9:g.94259875_94259876delinsAC NCBI36
NG_009073.1:g.104418_104419delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4774-18_4774-17delinsGT MANE Select ENSP00000359245.3:n.4774-18_4774-17delinsGT
ENST00000370225.3:c.4774-18_4774-17delinsGT ENSP00000359245.3:n.4774-18_4774-17delinsGT
ENST00000460514.1:n.268-18_268-17delinsGT
ENST00000536513.5:c.1150-18_1150-17delinsGT ENSP00000439707.2:n.1150-18_1150-17delinsGT
NM_000350.2:c.4774-18_4774-17delinsGT NP_000341.2:n.4774-18_4774-17delinsGT
NM_000350.3:c.4774-18_4774-17delinsGT MANE Select NP_000341.2:n.4774-18_4774-17delinsGT
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