Canonical Allele Identifier: CA2760283926
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291478_6291480del , CM000666.2:g.6291478_6291480del GRCh38
NC_000004.11:g.6293205_6293207del , CM000666.1:g.6293205_6293207del GRCh37
NC_000004.10:g.6344106_6344108del NCBI36
NG_011700.1:g.26629_26631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+111_631+113del ENSP00000507852.1:n.631+111_631+113del
ENST00000683395.1:c.608+124_608+126del
ENST00000684087.1:c.631+111_631+113del ENSP00000506978.1:n.631+111_631+113del
ENST00000684700.1:c.*37_*39del ENSP00000507806.1:n.*37_*39del
ENST00000506362.2:c.382+111_382+113del ENSP00000424103.2:n.382+111_382+113del
ENST00000673642.1:c.430+111_430+113del ENSP00000501242.1:n.430+111_430+113del
ENST00000673991.1:c.631+111_631+113del ENSP00000501033.1:n.631+111_631+113del
ENST00000226760.5:c.631+111_631+113del MANE Select ENSP00000226760.1:n.631+111_631+113del
ENST00000503569.5:c.631+111_631+113del ENSP00000423337.1:n.631+111_631+113del
ENST00000506362.1:c.228+111_228+113del
ENST00000507765.1:n.816+111_816+113del
NM_001145853.1:c.631+111_631+113del NP_001139325.1:n.631+111_631+113del
NM_006005.3:c.631+111_631+113del MANE Select NP_005996.2:n.631+111_631+113del
XM_017008586.1:c.640+111_640+113del XP_016864075.1:n.640+111_640+113del