Canonical Allele Identifier: CA2815264338
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652671_10652672del , CM000682.2:g.10652671_10652672del GRCh38
NC_000020.10:g.10633319_10633320del , CM000682.1:g.10633319_10633320del GRCh37
NC_000020.9:g.10581319_10581320del NCBI36
NG_007496.1:g.26375_26376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-74_756-73del MANE Select ENSP00000254958.4:n.756-74_756-73del
ENST00000617965.2:n.51_52del
ENST00000254958.9:c.756-74_756-73del ENSP00000254958.4:n.756-74_756-73del
ENST00000423891.6:n.622-74_622-73del
ENST00000617965.1:n.51_52del
NM_000214.2:c.756-74_756-73del NP_000205.1:n.756-74_756-73del
NM_000214.3:c.756-74_756-73del MANE Select NP_000205.1:n.756-74_756-73del