Canonical Allele Identifier: CA2349888247
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658182_10658184delinsAAT , CM000682.2:g.10658182_10658184delinsAAT GRCh38
NC_000020.10:g.10638830_10638832delinsAAT , CM000682.1:g.10638830_10638832delinsAAT GRCh37
NC_000020.9:g.10586830_10586832delinsAAT NCBI36
NG_007496.1:g.20863_20865delinsATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+284_694+286delinsATT MANE Select ENSP00000254958.4:n.694+284_694+286delinsATT
ENST00000254958.9:c.694+284_694+286delinsATT ENSP00000254958.4:n.694+284_694+286delinsATT
ENST00000423891.6:n.560+284_560+286delinsATT
NM_000214.2:c.694+284_694+286delinsATT NP_000205.1:n.694+284_694+286delinsATT
NM_000214.3:c.694+284_694+286delinsATT MANE Select NP_000205.1:n.694+284_694+286delinsATT