Canonical Allele Identifier: CA2573156862
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1539077
ClinVar RCV Id: RCV002162316
dbSNP Id: rs2122620228
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656390del , CM000682.2:g.10656390del GRCh38
NC_000020.10:g.10637038del , CM000682.1:g.10637038del GRCh37
NC_000020.9:g.10585038del NCBI36
NG_007496.1:g.22658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.755+9del MANE Select ENSP00000254958.4:n.755+9del
ENST00000254958.9:c.755+9del ENSP00000254958.4:n.755+9del
ENST00000423891.6:n.621+9del
NM_000214.2:c.755+9del NP_000205.1:n.755+9del
NM_000214.3:c.755+9del MANE Select NP_000205.1:n.755+9del
Search 100 bp 5'
Search 100 bp 3'