Canonical Allele Identifier: CA2695229557
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658653del , CM000682.2:g.10658653del GRCh38
NC_000020.10:g.10639301del , CM000682.1:g.10639301del GRCh37
NC_000020.9:g.10587301del NCBI36
NG_007496.1:g.20394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.509del MANE Select ENSP00000254958.4:p.Leu170ArgfsTer16
ENST00000254958.9:c.509del ENSP00000254958.4:p.Leu170ArgfsTer16
ENST00000423891.6:n.375del
NM_000214.2:c.509del NP_000205.1:p.Leu170ArgfsTer16
NM_000214.3:c.509del MANE Select NP_000205.1:p.Leu170ArgfsTer16
Search 100 bp 5'
Search 100 bp 3'