Canonical Allele Identifier: CA2349884770
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2662071
ClinVar RCV Id: RCV003443566
dbSNP Id: rs2067337055
gnomAD v4: 20-10650340-TAGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650343_10650345del , CM000682.2:g.10650343_10650345del GRCh38
NC_000020.10:g.10630991_10630993del , CM000682.1:g.10630991_10630993del GRCh37
NC_000020.9:g.10578991_10578993del NCBI36
NG_007496.1:g.28704_28706del

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1138_1140del MANE Select ENSP00000254958.4:p.Pro380del
ENST00000617965.2:n.1727_1729del
ENST00000254958.9:c.1138_1140del ENSP00000254958.4:p.Pro380del
ENST00000423891.6:n.1004_1006del
NM_000214.2:c.1138_1140del NP_000205.1:p.Pro380del
NM_000214.3:c.1138_1140del MANE Select NP_000205.1:p.Pro380del
Search 100 bp 5'
Search 100 bp 3'