Canonical Allele Identifier: CA2815263262
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644050_10644051insA , CM000682.2:g.10644050_10644051insA GRCh38
NC_000020.10:g.10624698_10624699insA , CM000682.1:g.10624698_10624699insA GRCh37
NC_000020.9:g.10572698_10572699insA NCBI36
NG_007496.1:g.34996_34997insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-188_2373-187insT MANE Select ENSP00000254958.4:n.2373-188_2373-187insT
ENST00000617965.2:n.2962-188_2962-187insT
ENST00000254958.9:c.2373-188_2373-187insT ENSP00000254958.4:n.2373-188_2373-187insT
ENST00000423891.6:n.2239-188_2239-187insT
NM_000214.2:c.2373-188_2373-187insT NP_000205.1:n.2373-188_2373-187insT
NM_000214.3:c.2373-188_2373-187insT MANE Select NP_000205.1:n.2373-188_2373-187insT