Canonical Allele Identifier: CA2586973600
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300732_6300736dup , CM000666.2:g.6300732_6300736dup GRCh38
NC_000004.11:g.6302459_6302463dup , CM000666.1:g.6302459_6302463dup GRCh37
NC_000004.10:g.6353360_6353364dup NCBI36
NG_011700.1:g.35883_35887dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.973_977dup ENSP00000507852.1:p.Trp326CysfsTer?
ENST00000683395.1:c.914_918dup
ENST00000684087.1:c.937_941dup ENSP00000506978.1:p.Trp314CysfsTer?
ENST00000506362.2:c.688_692dup ENSP00000424103.2:p.Trp231CysfsTer?
ENST00000673642.1:c.661-65_661-61dup ENSP00000501242.1:n.661-65_661-61dup
ENST00000673991.1:c.973_977dup ENSP00000501033.1:p.Trp326CysfsTer?
ENST00000226760.5:c.937_941dup MANE Select ENSP00000226760.1:p.Trp314CysfsTer?
ENST00000503569.5:c.937_941dup ENSP00000423337.1:p.Trp314CysfsTer?
ENST00000506362.1:c.570_574dup
ENST00000507765.1:n.1122_1126dup
ENST00000513395.1:n.495_499dup
NM_001145853.1:c.937_941dup NP_001139325.1:p.Trp314CysfsTer?
NM_006005.3:c.937_941dup MANE Select NP_005996.2:p.Trp314CysfsTer?
XM_017008586.1:c.946_950dup XP_016864075.1:p.Trp317CysfsTer?