Canonical Allele Identifier: CA2839603972
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656328_10656329del , CM000682.2:g.10656328_10656329del GRCh38
NC_000020.10:g.10636976_10636977del , CM000682.1:g.10636976_10636977del GRCh37
NC_000020.9:g.10584976_10584977del NCBI36
NG_007496.1:g.22720_22721del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.755+71_755+72del MANE Select ENSP00000254958.4:n.755+71_755+72del
ENST00000254958.9:c.755+71_755+72del ENSP00000254958.4:n.755+71_755+72del
ENST00000423891.6:n.621+71_621+72del
NM_000214.2:c.755+71_755+72del NP_000205.1:n.755+71_755+72del
NM_000214.3:c.755+71_755+72del MANE Select NP_000205.1:n.755+71_755+72del