Canonical Allele Identifier: CA741106987
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1413645147
gnomAD v3: 20-10645290-G-GC
gnomAD v4: 20-10645290-G-GC
MyVariant Identifiers: chr20:g.10625938_10625939insC (hg19) chr20:g.10645290_10645291insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645295dup , CM000682.2:g.10645295dup GRCh38
NC_000020.10:g.10625943dup , CM000682.1:g.10625943dup GRCh37
NC_000020.9:g.10573943dup NCBI36
NG_007496.1:g.33756dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2114-35dup MANE Select ENSP00000254958.4:n.2114-35dup
ENST00000617965.2:n.2703-35dup
ENST00000254958.9:c.2114-35dup ENSP00000254958.4:n.2114-35dup
ENST00000423891.6:n.1980-35dup
ENST00000488480.2:n.511-35dup
NM_000214.2:c.2114-35dup NP_000205.1:n.2114-35dup
NM_000214.3:c.2114-35dup MANE Select NP_000205.1:n.2114-35dup
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