Canonical Allele Identifier: CA2695229512
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650347dup , CM000682.2:g.10650347dup GRCh38
NC_000020.10:g.10630995dup , CM000682.1:g.10630995dup GRCh37
NC_000020.9:g.10578995dup NCBI36
NG_007496.1:g.28701dup

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1135dup MANE Select ENSP00000254958.4:p.Ser379PhefsTer3
ENST00000617965.2:n.1724dup
ENST00000254958.9:c.1135dup ENSP00000254958.4:p.Ser379PhefsTer3
ENST00000423891.6:n.1001dup
NM_000214.2:c.1135dup NP_000205.1:p.Ser379PhefsTer3
NM_000214.3:c.1135dup MANE Select NP_000205.1:p.Ser379PhefsTer3
Search 100 bp 5'
Search 100 bp 3'