Canonical Allele Identifier: CA2669843442
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301418_6301419del , CM000666.2:g.6301418_6301419del GRCh38
NC_000004.11:g.6303145_6303146del , CM000666.1:g.6303145_6303146del GRCh37
NC_000004.10:g.6354046_6354047del NCBI36
NG_011700.1:g.36569_36570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1659_1660del ENSP00000507852.1:p.Cys553Ter
ENST00000683395.1:c.1600_1601del
ENST00000684087.1:c.1623_1624del ENSP00000506978.1:p.Cys541Ter
ENST00000506362.2:c.1374_1375del ENSP00000424103.2:p.Cys458Ter
ENST00000673642.1:c.1282_1283del ENSP00000501242.1:p.Ter428SerextTer?
ENST00000673991.1:c.1659_1660del ENSP00000501033.1:p.Cys553Ter
ENST00000226760.5:c.1623_1624del MANE Select ENSP00000226760.1:p.Cys541Ter
ENST00000503569.5:c.1623_1624del ENSP00000423337.1:p.Cys541Ter
ENST00000507765.1:n.1808_1809del
NM_001145853.1:c.1623_1624del NP_001139325.1:p.Cys541Ter
NM_006005.3:c.1623_1624del MANE Select NP_005996.2:p.Cys541Ter
XM_017008586.1:c.1632_1633del XP_016864075.1:p.Cys544Ter