Canonical Allele Identifier: CA2349882349
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644710_10644730delinsCAGGGCTGTATCCCATCAAGT , CM000682.2:g.10644710_10644730delinsCAGGGCTGTATCCCATCAAGT GRCh38
NC_000020.10:g.10625358_10625378delinsCAGGGCTGTATCCCATCAAGT , CM000682.1:g.10625358_10625378delinsCAGGGCTGTATCCCATCAAGT GRCh37
NC_000020.9:g.10573358_10573378delinsCAGGGCTGTATCCCATCAAGT NCBI36
NG_007496.1:g.34317_34337delinsACTTGATGGGATACAGCCCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2344+133_2344+153delinsACTTGATGGGATACAGCCCTG MANE Select ENSP00000254958.4:n.2344+133_2344+153delinsACTTGATGGGATACAGCC...
ENST00000617965.2:n.2933+133_2933+153delinsACTTGATGGGATACAGCCCTG
ENST00000254958.9:c.2344+133_2344+153delinsACTTGATGGGATACAGCCCTG ENSP00000254958.4:n.2344+133_2344+153delinsACTTGATGGGATACAGCC...
ENST00000423891.6:n.2210+133_2210+153delinsACTTGATGGGATACAGCCCTG
ENST00000488480.2:n.874_894delinsACTTGATGGGATACAGCCCTG
NM_000214.2:c.2344+133_2344+153delinsACTTGATGGGATACAGCCCTG NP_000205.1:n.2344+133_2344+153delinsACTTGATGGGATACAGCCCTG
NM_000214.3:c.2344+133_2344+153delinsACTTGATGGGATACAGCCCTG MANE Select NP_000205.1:n.2344+133_2344+153delinsACTTGATGGGATACAGCCCTG
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