Canonical Allele Identifier: CA2695229556
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658641_10658644dup , CM000682.2:g.10658641_10658644dup GRCh38
NC_000020.10:g.10639289_10639292dup , CM000682.1:g.10639289_10639292dup GRCh37
NC_000020.9:g.10587289_10587292dup NCBI36
NG_007496.1:g.20403_20406dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.518_521dup MANE Select ENSP00000254958.4:p.Gly175HisfsTer7
ENST00000254958.9:c.518_521dup ENSP00000254958.4:p.Gly175HisfsTer7
ENST00000423891.6:n.384_387dup
NM_000214.2:c.518_521dup NP_000205.1:p.Gly175HisfsTer7
NM_000214.3:c.518_521dup MANE Select NP_000205.1:p.Gly175HisfsTer7
Search 100 bp 5'
Search 100 bp 3'