Canonical Allele Identifier: CA2815263181
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643957_10643958insA , CM000682.2:g.10643957_10643958insA GRCh38
NC_000020.10:g.10624605_10624606insA , CM000682.1:g.10624605_10624606insA GRCh37
NC_000020.9:g.10572605_10572606insA NCBI36
NG_007496.1:g.35089_35090insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-95_2373-94insT MANE Select ENSP00000254958.4:n.2373-95_2373-94insT
ENST00000617965.2:n.2962-95_2962-94insT
ENST00000254958.9:c.2373-95_2373-94insT ENSP00000254958.4:n.2373-95_2373-94insT
ENST00000423891.6:n.2239-95_2239-94insT
NM_000214.2:c.2373-95_2373-94insT NP_000205.1:n.2373-95_2373-94insT
NM_000214.3:c.2373-95_2373-94insT MANE Select NP_000205.1:n.2373-95_2373-94insT