Canonical Allele Identifier: CA2580097942
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2118203
ClinVar RCV Id: RCV003030360
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658720del , CM000682.2:g.10658720del GRCh38
NC_000020.10:g.10639368del , CM000682.1:g.10639368del GRCh37
NC_000020.9:g.10587368del NCBI36
NG_007496.1:g.20328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.443del MANE Select ENSP00000254958.4:p.Pro148LeufsTer13
ENST00000254958.9:c.443del ENSP00000254958.4:p.Pro148LeufsTer13
ENST00000423891.6:n.309del
NM_000214.2:c.443del NP_000205.1:p.Pro148LeufsTer13
NM_000214.3:c.443del MANE Select NP_000205.1:p.Pro148LeufsTer13
Search 100 bp 5'
Search 100 bp 3'