Canonical Allele Identifier: CA2815264267
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652650_10652657del , CM000682.2:g.10652650_10652657del GRCh38
NC_000020.10:g.10633298_10633305del , CM000682.1:g.10633298_10633305del GRCh37
NC_000020.9:g.10581298_10581305del NCBI36
NG_007496.1:g.26393_26400del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-56_756-49del MANE Select ENSP00000254958.4:n.756-56_756-49del
ENST00000617965.2:n.69_76del
ENST00000254958.9:c.756-56_756-49del ENSP00000254958.4:n.756-56_756-49del
ENST00000423891.6:n.622-56_622-49del
ENST00000617965.1:n.69_76del
NM_000214.2:c.756-56_756-49del NP_000205.1:n.756-56_756-49del
NM_000214.3:c.756-56_756-49del MANE Select NP_000205.1:n.756-56_756-49del