Canonical Allele Identifier: CA645369803

Gene: JAG1

Linked Data

• ClinVar Variation Id: 430436
• ClinVar RCV Id: RCV000493356
• dbSNP Id: rs1131691963
• MyVariant Identifiers: chr20:g.10639162dup (hg19) ; chr20:g.10639161_10639162insG (hg19) ; chr20:g.10658514dup (hg38) ; chr20:g.10658513_10658514insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658514dup , CM000682.2:g.10658514dup	GRCh38
NC_000020.10:g.10639162dup , CM000682.1:g.10639162dup	GRCh37
NC_000020.9:g.10587162dup	NCBI36
NG_007496.1:g.20533dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.648dup MANE Select	ENSP00000254958.4:p.Asn217GlnfsTer14
ENST00000254958.9:c.648dup	ENSP00000254958.4:p.Asn217GlnfsTer14
ENST00000423891.6:n.514dup
NM_000214.2:c.648dup	NP_000205.1:p.Asn217GlnfsTer14
NM_000214.3:c.648dup MANE Select	NP_000205.1:p.Asn217GlnfsTer14