Canonical Allele Identifier: CA2349882029
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067290893

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643996_10643997del , CM000682.2:g.10643996_10643997del GRCh38
NC_000020.10:g.10624644_10624645del , CM000682.1:g.10624644_10624645del GRCh37
NC_000020.9:g.10572644_10572645del NCBI36
NG_007496.1:g.35051_35052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-133_2373-132del MANE Select ENSP00000254958.4:n.2373-133_2373-132del
ENST00000617965.2:n.2962-133_2962-132del
ENST00000254958.9:c.2373-133_2373-132del ENSP00000254958.4:n.2373-133_2373-132del
ENST00000423891.6:n.2239-133_2239-132del
NM_000214.2:c.2373-133_2373-132del NP_000205.1:n.2373-133_2373-132del
NM_000214.3:c.2373-133_2373-132del MANE Select NP_000205.1:n.2373-133_2373-132del