Canonical Allele Identifier: CA2586973640
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301714_6301723del , CM000666.2:g.6301714_6301723del GRCh38
NC_000004.11:g.6303441_6303450del , CM000666.1:g.6303441_6303450del GRCh37
NC_000004.10:g.6354342_6354351del NCBI36
NG_011700.1:g.36865_36874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1955_1964del ENSP00000507852.1:p.Leu652ProfsTer15
ENST00000683395.1:c.1896_1905del
ENST00000684087.1:c.1919_1928del ENSP00000506978.1:p.Leu640ProfsTer15
ENST00000506362.2:c.1670_1679del ENSP00000424103.2:p.Leu557ProfsTer15
ENST00000673642.1:c.1578_1587del ENSP00000501242.1:n.1578_1587del
ENST00000673991.1:c.1955_1964del ENSP00000501033.1:p.Leu652ProfsTer15
ENST00000226760.5:c.1919_1928del MANE Select ENSP00000226760.1:p.Leu640ProfsTer15
ENST00000503569.5:c.1919_1928del ENSP00000423337.1:p.Leu640ProfsTer15
ENST00000507765.1:n.2104_2113del
NM_001145853.1:c.1919_1928del NP_001139325.1:p.Leu640ProfsTer15
NM_006005.3:c.1919_1928del MANE Select NP_005996.2:p.Leu640ProfsTer15
XM_017008586.1:c.1928_1937del XP_016864075.1:p.Leu643ProfsTer15