Canonical Allele Identifier: CA2815264262
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652640_10652642del , CM000682.2:g.10652640_10652642del GRCh38
NC_000020.10:g.10633288_10633290del , CM000682.1:g.10633288_10633290del GRCh37
NC_000020.9:g.10581288_10581290del NCBI36
NG_007496.1:g.26405_26407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-44_756-42del MANE Select ENSP00000254958.4:n.756-44_756-42del
ENST00000617965.2:n.81_83del
ENST00000254958.9:c.756-44_756-42del ENSP00000254958.4:n.756-44_756-42del
ENST00000423891.6:n.622-44_622-42del
ENST00000617965.1:n.81_83del
NM_000214.2:c.756-44_756-42del NP_000205.1:n.756-44_756-42del
NM_000214.3:c.756-44_756-42del MANE Select NP_000205.1:n.756-44_756-42del