Canonical Allele Identifier: CA10588937
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266004
ClinVar RCV Id: RCV000256399
dbSNP Id: rs886039887
MyVariant Identifiers: chr20:g.10625513dupT (hg19) chr20:g.10625512_10625513insT (hg19) chr20:g.10644865dupT (hg38) chr20:g.10644864_10644865insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644865dup , CM000682.2:g.10644865dup GRCh38
NC_000020.10:g.10625513dup , CM000682.1:g.10625513dup GRCh37
NC_000020.9:g.10573513dup NCBI36
NG_007496.1:g.34182dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2342dup MANE Select ENSP00000254958.4:p.Asn782GlufsTer4
ENST00000617965.2:n.2931dup
ENST00000254958.9:c.2342dup ENSP00000254958.4:p.Asn782GlufsTer4
ENST00000423891.6:n.2208dup
ENST00000488480.2:n.739dup
NM_000214.2:c.2342dup NP_000205.1:p.Asn782GlufsTer4
NM_000214.3:c.2342dup MANE Select NP_000205.1:p.Asn782GlufsTer4
Search 100 bp 5'
Search 100 bp 3'