Canonical Allele Identifier: CA2651914469
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644711-A-AGGGCTGTATCCCATCAAGTCATTAATGCAGACCCAGGTGATACAAAAGCAGACATCAAACAGCTCTGCTTCT
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644714_10644785dup , CM000682.2:g.10644714_10644785dup GRCh38
NC_000020.10:g.10625362_10625433dup , CM000682.1:g.10625362_10625433dup GRCh37
NC_000020.9:g.10573362_10573433dup NCBI36
NG_007496.1:g.34264_34335dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+80_2344+151dup MANE Select ENSP00000254958.4:n.2344+80_2344+151dup
ENST00000617965.2:n.2933+80_2933+151dup
ENST00000254958.9:c.2344+80_2344+151dup ENSP00000254958.4:n.2344+80_2344+151dup
ENST00000423891.6:n.2210+80_2210+151dup
ENST00000488480.2:n.821_892dup
NM_000214.2:c.2344+80_2344+151dup NP_000205.1:n.2344+80_2344+151dup
NM_000214.3:c.2344+80_2344+151dup MANE Select NP_000205.1:n.2344+80_2344+151dup
Search 100 bp 5'
Search 100 bp 3'