Canonical Allele Identifier: CA2815263257
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644036_10644151del , CM000682.2:g.10644036_10644151del GRCh38
NC_000020.10:g.10624684_10624799del , CM000682.1:g.10624684_10624799del GRCh37
NC_000020.9:g.10572684_10572799del NCBI36
NG_007496.1:g.34902_35017del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2372+212_2373-167del MANE Select ENSP00000254958.4:n.2372+212_2373-167del
ENST00000617965.2:n.2961+212_2962-167del
ENST00000254958.9:c.2372+212_2373-167del ENSP00000254958.4:n.2372+212_2373-167del
ENST00000423891.6:n.2238+212_2239-167del
NM_000214.2:c.2372+212_2373-167del NP_000205.1:n.2372+212_2373-167del
NM_000214.3:c.2372+212_2373-167del MANE Select NP_000205.1:n.2372+212_2373-167del