Canonical Allele Identifier: CA2349885743
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652635_10652636delinsGA , CM000682.2:g.10652635_10652636delinsGA GRCh38
NC_000020.10:g.10633283_10633284delinsGA , CM000682.1:g.10633283_10633284delinsGA GRCh37
NC_000020.9:g.10581283_10581284delinsGA NCBI36
NG_007496.1:g.26411_26412delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-38_756-37delinsTC MANE Select ENSP00000254958.4:n.756-38_756-37delinsTC
ENST00000617965.2:n.87_88delinsTC
ENST00000254958.9:c.756-38_756-37delinsTC ENSP00000254958.4:n.756-38_756-37delinsTC
ENST00000423891.6:n.622-38_622-37delinsTC
ENST00000617965.1:n.87_88delinsTC
NM_000214.2:c.756-38_756-37delinsTC NP_000205.1:n.756-38_756-37delinsTC
NM_000214.3:c.756-38_756-37delinsTC MANE Select NP_000205.1:n.756-38_756-37delinsTC