Canonical Allele Identifier: CA658799344
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 512320
ClinVar RCV Id: RCV000607256
dbSNP Id: rs1555831023
MyVariant Identifiers: chr20:g.10654239_10654253dup (hg19) chr20:g.10673591_10673605dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673596_10673610dup , CM000682.2:g.10673596_10673610dup GRCh38
NC_000020.10:g.10654244_10654258dup , CM000682.1:g.10654244_10654258dup GRCh37
NC_000020.9:g.10602244_10602258dup NCBI36
NG_007496.1:g.5442_5456dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-75_-61dup MANE Select ENSP00000254958.4:n.-75_-61dup
ENST00000254958.9:c.-75_-61dup ENSP00000254958.4:n.-75_-61dup
NM_000214.2:c.-75_-61dup NP_000205.1:n.-75_-61dup
NM_000214.3:c.-75_-61dup MANE Select NP_000205.1:n.-75_-61dup
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