Canonical Allele Identifier: CA2695229548
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656435dup , CM000682.2:g.10656435dup GRCh38
NC_000020.10:g.10637083dup , CM000682.1:g.10637083dup GRCh37
NC_000020.9:g.10585083dup NCBI36
NG_007496.1:g.22613dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.719dup MANE Select ENSP00000254958.4:p.Lys241Ter
ENST00000254958.9:c.719dup ENSP00000254958.4:p.Lys241Ter
ENST00000423891.6:n.585dup
NM_000214.2:c.719dup NP_000205.1:p.Lys241Ter
NM_000214.3:c.719dup MANE Select NP_000205.1:p.Lys241Ter
Search 100 bp 5'
Search 100 bp 3'