Canonical Allele Identifier: CA2573156857
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1353877
ClinVar RCV Id: RCV001863650
dbSNP Id: rs2122611660
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650343del , CM000682.2:g.10650343del GRCh38
NC_000020.10:g.10630991del , CM000682.1:g.10630991del GRCh37
NC_000020.9:g.10578991del NCBI36
NG_007496.1:g.28705del

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1139del MANE Select ENSP00000254958.4:p.Pro380LeufsTer?
ENST00000617965.2:n.1728del
ENST00000254958.9:c.1139del ENSP00000254958.4:p.Pro380LeufsTer?
ENST00000423891.6:n.1005del
NM_000214.2:c.1139del NP_000205.1:p.Pro380LeufsTer?
NM_000214.3:c.1139del MANE Select NP_000205.1:p.Pro380LeufsTer?
Search 100 bp 5'
Search 100 bp 3'