Canonical Allele Identifier: CA2349887338
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656178_10656179delinsGC , CM000682.2:g.10656178_10656179delinsGC GRCh38
NC_000020.10:g.10636826_10636827delinsGC , CM000682.1:g.10636826_10636827delinsGC GRCh37
NC_000020.9:g.10584826_10584827delinsGC NCBI36
NG_007496.1:g.22868_22869delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.755+219_755+220delinsGC MANE Select ENSP00000254958.4:n.755+219_755+220delinsGC
ENST00000254958.9:c.755+219_755+220delinsGC ENSP00000254958.4:n.755+219_755+220delinsGC
ENST00000423891.6:n.621+219_621+220delinsGC
NM_000214.2:c.755+219_755+220delinsGC NP_000205.1:n.755+219_755+220delinsGC
NM_000214.3:c.755+219_755+220delinsGC MANE Select NP_000205.1:n.755+219_755+220delinsGC