Canonical Allele Identifier: CA2815264256
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652639_10652644del , CM000682.2:g.10652639_10652644del GRCh38
NC_000020.10:g.10633287_10633292del , CM000682.1:g.10633287_10633292del GRCh37
NC_000020.9:g.10581287_10581292del NCBI36
NG_007496.1:g.26403_26408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-46_756-41del MANE Select ENSP00000254958.4:n.756-46_756-41del
ENST00000617965.2:n.79_84del
ENST00000254958.9:c.756-46_756-41del ENSP00000254958.4:n.756-46_756-41del
ENST00000423891.6:n.622-46_622-41del
ENST00000617965.1:n.79_84del
NM_000214.2:c.756-46_756-41del NP_000205.1:n.756-46_756-41del
NM_000214.3:c.756-46_756-41del MANE Select NP_000205.1:n.756-46_756-41del