Canonical Allele Identifier: CA2815263145
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643932_10643934del , CM000682.2:g.10643932_10643934del GRCh38
NC_000020.10:g.10624580_10624582del , CM000682.1:g.10624580_10624582del GRCh37
NC_000020.9:g.10572580_10572582del NCBI36
NG_007496.1:g.35113_35115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-71_2373-69del MANE Select ENSP00000254958.4:n.2373-71_2373-69del
ENST00000617965.2:n.2962-71_2962-69del
ENST00000254958.9:c.2373-71_2373-69del ENSP00000254958.4:n.2373-71_2373-69del
ENST00000423891.6:n.2239-71_2239-69del
NM_000214.2:c.2373-71_2373-69del NP_000205.1:n.2373-71_2373-69del
NM_000214.3:c.2373-71_2373-69del MANE Select NP_000205.1:n.2373-71_2373-69del