Canonical Allele Identifier: CA322132
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213563
ClinVar RCV Id: RCV000197674
dbSNP Id: rs863223676
MyVariant Identifiers: chr20:g.10621800_10621801dupCT (hg19) chr20:g.10621799_10621800insCT (hg19) chr20:g.10641152_10641153dupCT (hg38) chr20:g.10641151_10641152insCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10641153_10641154dup , CM000682.2:g.10641153_10641154dup GRCh38
NC_000020.10:g.10621801_10621802dup , CM000682.1:g.10621801_10621802dup GRCh37
NC_000020.9:g.10569801_10569802dup NCBI36
NG_007496.1:g.37894_37895dup

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.3008_3009dup MANE Select ENSP00000254958.4:p.Pro1004SerfsTer?
ENST00000254958.9:c.3008_3009dup ENSP00000254958.4:p.Pro1004SerfsTer?
ENST00000423891.6:n.2874_2875dup
ENST00000617357.1:n.124_125dup
NM_000214.2:c.3008_3009dup NP_000205.1:p.Pro1004SerfsTer?
NM_000214.3:c.3008_3009dup MANE Select NP_000205.1:p.Pro1004SerfsTer?
Search 100 bp 5'
Search 100 bp 3'