Canonical Allele Identifier: CA2651917329
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656378_10656379del , CM000682.2:g.10656378_10656379del GRCh38
NC_000020.10:g.10637026_10637027del , CM000682.1:g.10637026_10637027del GRCh37
NC_000020.9:g.10585026_10585027del NCBI36
NG_007496.1:g.22670_22671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.755+21_755+22del MANE Select ENSP00000254958.4:n.755+21_755+22del
ENST00000254958.9:c.755+21_755+22del ENSP00000254958.4:n.755+21_755+22del
ENST00000423891.6:n.621+21_621+22del
NM_000214.2:c.755+21_755+22del NP_000205.1:n.755+21_755+22del
NM_000214.3:c.755+21_755+22del MANE Select NP_000205.1:n.755+21_755+22del