Canonical Allele Identifier: CA634801889
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 965625
ClinVar RCV Id: RCV001240123
dbSNP Id: rs1235111413
gnomAD v2: 20-10639111-CAT-C
gnomAD v3: 20-10658463-CAT-C
gnomAD v4: 20-10658463-CAT-C
MyVariant Identifiers: chr20:g.10639112_10639113del (hg19) chr20:g.10658464_10658465del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658465_10658466del , CM000682.2:g.10658465_10658466del GRCh38
NC_000020.10:g.10639113_10639114del , CM000682.1:g.10639113_10639114del GRCh37
NC_000020.9:g.10587113_10587114del NCBI36
NG_007496.1:g.20582_20583del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+3_694+4del MANE Select ENSP00000254958.4:n.694+3_694+4del
ENST00000254958.9:c.694+3_694+4del ENSP00000254958.4:n.694+3_694+4del
ENST00000423891.6:n.560+3_560+4del
NM_000214.2:c.694+3_694+4del NP_000205.1:n.694+3_694+4del
NM_000214.3:c.694+3_694+4del MANE Select NP_000205.1:n.694+3_694+4del
Search 100 bp 5'
Search 100 bp 3'