Canonical Allele Identifier: CA2815263171
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643946_10643947insAGA , CM000682.2:g.10643946_10643947insAGA GRCh38
NC_000020.10:g.10624594_10624595insAGA , CM000682.1:g.10624594_10624595insAGA GRCh37
NC_000020.9:g.10572594_10572595insAGA NCBI36
NG_007496.1:g.35100_35101insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-84_2373-83insTCT MANE Select ENSP00000254958.4:n.2373-84_2373-83insTCT
ENST00000617965.2:n.2962-84_2962-83insTCT
ENST00000254958.9:c.2373-84_2373-83insTCT ENSP00000254958.4:n.2373-84_2373-83insTCT
ENST00000423891.6:n.2239-84_2239-83insTCT
NM_000214.2:c.2373-84_2373-83insTCT NP_000205.1:n.2373-84_2373-83insTCT
NM_000214.3:c.2373-84_2373-83insTCT MANE Select NP_000205.1:n.2373-84_2373-83insTCT