Canonical Allele Identifier: CA2815263891
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644611del , CM000682.2:g.10644611del GRCh38
NC_000020.10:g.10625259del , CM000682.1:g.10625259del GRCh37
NC_000020.9:g.10573259del NCBI36
NG_007496.1:g.34436del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2345-227del MANE Select ENSP00000254958.4:n.2345-227del
ENST00000617965.2:n.2934-227del
ENST00000254958.9:c.2345-227del ENSP00000254958.4:n.2345-227del
ENST00000423891.6:n.2211-227del
ENST00000488480.2:n.993del
NM_000214.2:c.2345-227del NP_000205.1:n.2345-227del
NM_000214.3:c.2345-227del MANE Select NP_000205.1:n.2345-227del