Canonical Allele Identifier: CA2760283964
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291495_6291498del , CM000666.2:g.6291495_6291498del GRCh38
NC_000004.11:g.6293222_6293225del , CM000666.1:g.6293222_6293225del GRCh37
NC_000004.10:g.6344123_6344126del NCBI36
NG_011700.1:g.26646_26649del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+128_631+131del ENSP00000507852.1:n.631+128_631+131del
ENST00000683395.1:c.608+141_608+144del
ENST00000684087.1:c.631+128_631+131del ENSP00000506978.1:n.631+128_631+131del
ENST00000684700.1:c.*54_*57del ENSP00000507806.1:n.*54_*57del
ENST00000506362.2:c.382+128_382+131del ENSP00000424103.2:n.382+128_382+131del
ENST00000673642.1:c.430+128_430+131del ENSP00000501242.1:n.430+128_430+131del
ENST00000673991.1:c.631+128_631+131del ENSP00000501033.1:n.631+128_631+131del
ENST00000226760.5:c.631+128_631+131del MANE Select ENSP00000226760.1:n.631+128_631+131del
ENST00000503569.5:c.631+128_631+131del ENSP00000423337.1:n.631+128_631+131del
ENST00000506362.1:c.228+128_228+131del
ENST00000507765.1:n.816+128_816+131del
NM_001145853.1:c.631+128_631+131del NP_001139325.1:n.631+128_631+131del
NM_006005.3:c.631+128_631+131del MANE Select NP_005996.2:n.631+128_631+131del
XM_017008586.1:c.640+128_640+131del XP_016864075.1:n.640+128_640+131del