Canonical Allele Identifier: CA2586973608
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300900_6300904dup , CM000666.2:g.6300900_6300904dup GRCh38
NC_000004.11:g.6302627_6302631dup , CM000666.1:g.6302627_6302631dup GRCh37
NC_000004.10:g.6353528_6353532dup NCBI36
NG_011700.1:g.36051_36055dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1141_1145dup ENSP00000507852.1:p.Trp383ArgfsTer?
ENST00000683395.1:c.1082_1086dup
ENST00000684087.1:c.1105_1109dup ENSP00000506978.1:p.Trp371ArgfsTer?
ENST00000506362.2:c.856_860dup ENSP00000424103.2:p.Trp288ArgfsTer?
ENST00000673642.1:c.764_768dup ENSP00000501242.1:p.Leu257LysfsTer?
ENST00000673991.1:c.1141_1145dup ENSP00000501033.1:p.Trp383ArgfsTer?
ENST00000226760.5:c.1105_1109dup MANE Select ENSP00000226760.1:p.Trp371ArgfsTer?
ENST00000503569.5:c.1105_1109dup ENSP00000423337.1:p.Trp371ArgfsTer?
ENST00000506362.1:c.738_742dup
ENST00000507765.1:n.1290_1294dup
NM_001145853.1:c.1105_1109dup NP_001139325.1:p.Trp371ArgfsTer?
NM_006005.3:c.1105_1109dup MANE Select NP_005996.2:p.Trp371ArgfsTer?
XM_017008586.1:c.1114_1118dup XP_016864075.1:p.Trp374ArgfsTer?