Canonical Allele Identifier: CA2349882323
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644650T= , CM000682.2:g.10644650T= GRCh38
NC_000020.10:g.10625298T= , CM000682.1:g.10625298T= GRCh37
NC_000020.9:g.10573298T= NCBI36
NG_007496.1:g.34397A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+213A= MANE Select ENSP00000254958.4:n.2344+213A=
ENST00000617965.2:n.2933+213A=
ENST00000254958.9:c.2344+213A= ENSP00000254958.4:n.2344+213A=
ENST00000423891.6:n.2210+213A=
ENST00000488480.2:n.954A=
NM_000214.2:c.2344+213A= NP_000205.1:n.2344+213A=
NM_000214.3:c.2344+213A= MANE Select NP_000205.1:n.2344+213A=
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