Canonical Allele Identifier: CA2349884769
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650340_10650343delinsTAGG , CM000682.2:g.10650340_10650343delinsTAGG GRCh38
NC_000020.10:g.10630988_10630991delinsTAGG , CM000682.1:g.10630988_10630991delinsTAGG GRCh37
NC_000020.9:g.10578988_10578991delinsTAGG NCBI36
NG_007496.1:g.28704_28707delinsCCTA

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1138_1141delinsCCTA MANE Select ENSP00000254958.4:p.Pro380=
ENST00000617965.2:n.1727_1730delinsCCTA
ENST00000254958.9:c.1138_1141delinsCCTA ENSP00000254958.4:p.Pro380=
ENST00000423891.6:n.1004_1007delinsCCTA
NM_000214.2:c.1138_1141delinsCCTA NP_000205.1:p.Pro380=
NM_000214.3:c.1138_1141delinsCCTA MANE Select NP_000205.1:p.Pro380=
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