Canonical Allele Identifier: CA2815263166
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643945_10643946insAGA , CM000682.2:g.10643945_10643946insAGA GRCh38
NC_000020.10:g.10624593_10624594insAGA , CM000682.1:g.10624593_10624594insAGA GRCh37
NC_000020.9:g.10572593_10572594insAGA NCBI36
NG_007496.1:g.35101_35102insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-83_2373-82insTCT MANE Select ENSP00000254958.4:n.2373-83_2373-82insTCT
ENST00000617965.2:n.2962-83_2962-82insTCT
ENST00000254958.9:c.2373-83_2373-82insTCT ENSP00000254958.4:n.2373-83_2373-82insTCT
ENST00000423891.6:n.2239-83_2239-82insTCT
NM_000214.2:c.2373-83_2373-82insTCT NP_000205.1:n.2373-83_2373-82insTCT
NM_000214.3:c.2373-83_2373-82insTCT MANE Select NP_000205.1:n.2373-83_2373-82insTCT