Canonical Allele Identifier: CA2815264271
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652650_10652652del , CM000682.2:g.10652650_10652652del GRCh38
NC_000020.10:g.10633298_10633300del , CM000682.1:g.10633298_10633300del GRCh37
NC_000020.9:g.10581298_10581300del NCBI36
NG_007496.1:g.26395_26397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-54_756-52del MANE Select ENSP00000254958.4:n.756-54_756-52del
ENST00000617965.2:n.71_73del
ENST00000254958.9:c.756-54_756-52del ENSP00000254958.4:n.756-54_756-52del
ENST00000423891.6:n.622-54_622-52del
ENST00000617965.1:n.71_73del
NM_000214.2:c.756-54_756-52del NP_000205.1:n.756-54_756-52del
NM_000214.3:c.756-54_756-52del MANE Select NP_000205.1:n.756-54_756-52del