Canonical Allele Identifier: CA324684
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 213548
ClinVar RCV Id: RCV000200125
dbSNP Id: rs863223662
MyVariant Identifiers: chr20:g.10654172dupA (hg19) chr20:g.10654171_10654172insA (hg19) chr20:g.10673524dupA (hg38) chr20:g.10673523_10673524insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673525dup , CM000682.2:g.10673525dup GRCh38
NC_000020.10:g.10654173dup , CM000682.1:g.10654173dup GRCh37
NC_000020.9:g.10602173dup NCBI36
NG_007496.1:g.5523dup

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.7dup MANE Select ENSP00000254958.4:p.Ser3PhefsTer?
ENST00000254958.9:c.7dup ENSP00000254958.4:p.Ser3PhefsTer?
NM_000214.2:c.7dup NP_000205.1:p.Ser3PhefsTer?
NM_000214.3:c.7dup MANE Select NP_000205.1:p.Ser3PhefsTer?
Search 100 bp 5'
Search 100 bp 3'