Canonical Allele Identifier: CA2760284702
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300950_6300952del , CM000666.2:g.6300950_6300952del GRCh38
NC_000004.11:g.6302677_6302679del , CM000666.1:g.6302677_6302679del GRCh37
NC_000004.10:g.6353578_6353580del NCBI36
NG_011700.1:g.36101_36103del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1191_1193del ENSP00000507852.1:p.Glu397_Pro398delinsAsp
ENST00000683395.1:c.1132_1134del
ENST00000684087.1:c.1155_1157del ENSP00000506978.1:p.Glu385_Pro386delinsAsp
ENST00000506362.2:c.906_908del ENSP00000424103.2:p.Glu302_Pro303delinsAsp
ENST00000673642.1:c.814_816del ENSP00000501242.1:p.Ala272del
ENST00000673991.1:c.1191_1193del ENSP00000501033.1:p.Glu397_Pro398delinsAsp
ENST00000226760.5:c.1155_1157del MANE Select ENSP00000226760.1:p.Glu385_Pro386delinsAsp
ENST00000503569.5:c.1155_1157del ENSP00000423337.1:p.Glu385_Pro386delinsAsp
ENST00000507765.1:n.1340_1342del
NM_001145853.1:c.1155_1157del NP_001139325.1:p.Glu385_Pro386delinsAsp
NM_006005.3:c.1155_1157del MANE Select NP_005996.2:p.Glu385_Pro386delinsAsp
XM_017008586.1:c.1164_1166del XP_016864075.1:p.Glu388_Pro389delinsAsp