Canonical Allele Identifier: CA2349885718
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652571_10652572delinsGT , CM000682.2:g.10652571_10652572delinsGT GRCh38
NC_000020.10:g.10633219_10633220delinsGT , CM000682.1:g.10633219_10633220delinsGT GRCh37
NC_000020.9:g.10581219_10581220delinsGT NCBI36
NG_007496.1:g.26475_26476delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.782_783delinsAC MANE Select ENSP00000254958.4:p.Tyr261=
ENST00000617965.2:n.151_152delinsAC
ENST00000254958.9:c.782_783delinsAC ENSP00000254958.4:p.Tyr261=
ENST00000423891.6:n.648_649delinsAC
ENST00000617965.1:n.151_152delinsAC
NM_000214.2:c.782_783delinsAC NP_000205.1:p.Tyr261=
NM_000214.3:c.782_783delinsAC MANE Select NP_000205.1:p.Tyr261=
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