Canonical Allele Identifier: CA2815263192
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643964_10643965insAGT , CM000682.2:g.10643964_10643965insAGT GRCh38
NC_000020.10:g.10624612_10624613insAGT , CM000682.1:g.10624612_10624613insAGT GRCh37
NC_000020.9:g.10572612_10572613insAGT NCBI36
NG_007496.1:g.35082_35083insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-102_2373-101insACT MANE Select ENSP00000254958.4:n.2373-102_2373-101insACT
ENST00000617965.2:n.2962-102_2962-101insACT
ENST00000254958.9:c.2373-102_2373-101insACT ENSP00000254958.4:n.2373-102_2373-101insACT
ENST00000423891.6:n.2239-102_2239-101insACT
NM_000214.2:c.2373-102_2373-101insACT NP_000205.1:n.2373-102_2373-101insACT
NM_000214.3:c.2373-102_2373-101insACT MANE Select NP_000205.1:n.2373-102_2373-101insACT