Canonical Allele Identifier: CA2815263958
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644670_10644752del , CM000682.2:g.10644670_10644752del GRCh38
NC_000020.10:g.10625318_10625400del , CM000682.1:g.10625318_10625400del GRCh37
NC_000020.9:g.10573318_10573400del NCBI36
NG_007496.1:g.34296_34378del

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2344+112_2344+194del MANE Select ENSP00000254958.4:n.2344+112_2344+194del
ENST00000617965.2:n.2933+112_2933+194del
ENST00000254958.9:c.2344+112_2344+194del ENSP00000254958.4:n.2344+112_2344+194del
ENST00000423891.6:n.2210+112_2210+194del
ENST00000488480.2:n.853_935del
NM_000214.2:c.2344+112_2344+194del NP_000205.1:n.2344+112_2344+194del
NM_000214.3:c.2344+112_2344+194del MANE Select NP_000205.1:n.2344+112_2344+194del
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