Canonical Allele Identifier: CA324651
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213551
ClinVar RCV Id: RCV000200092
dbSNP Id: rs863223665
MyVariant Identifiers: chr20:g.10639146del (hg19) chr20:g.10658498del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658499del , CM000682.2:g.10658499del GRCh38
NC_000020.10:g.10639147del , CM000682.1:g.10639147del GRCh37
NC_000020.9:g.10587147del NCBI36
NG_007496.1:g.20549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.664del MANE Select ENSP00000254958.4:p.Glu222LysfsTer?
ENST00000254958.9:c.664del ENSP00000254958.4:p.Glu222LysfsTer?
ENST00000423891.6:n.530del
NM_000214.2:c.664del NP_000205.1:p.Glu222LysfsTer?
NM_000214.3:c.664del MANE Select NP_000205.1:p.Glu222LysfsTer?
Search 100 bp 5'
Search 100 bp 3'