Canonical Allele Identifier: CA2815264245
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652632_10652633insAC , CM000682.2:g.10652632_10652633insAC GRCh38
NC_000020.10:g.10633280_10633281insAC , CM000682.1:g.10633280_10633281insAC GRCh37
NC_000020.9:g.10581280_10581281insAC NCBI36
NG_007496.1:g.26414_26415insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-35_756-34insGT MANE Select ENSP00000254958.4:n.756-35_756-34insGT
ENST00000617965.2:n.90_91insGT
ENST00000254958.9:c.756-35_756-34insGT ENSP00000254958.4:n.756-35_756-34insGT
ENST00000423891.6:n.622-35_622-34insGT
ENST00000617965.1:n.90_91insGT
NM_000214.2:c.756-35_756-34insGT NP_000205.1:n.756-35_756-34insGT
NM_000214.3:c.756-35_756-34insGT MANE Select NP_000205.1:n.756-35_756-34insGT