Canonical Allele Identifier: CA2760284156
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291625_6291626del , CM000666.2:g.6291625_6291626del GRCh38
NC_000004.11:g.6293352_6293353del , CM000666.1:g.6293352_6293353del GRCh37
NC_000004.10:g.6344253_6344254del NCBI36
NG_011700.1:g.26776_26777del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.631+258_631+259del ENSP00000507852.1:n.631+258_631+259del
ENST00000683395.1:c.608+271_608+272del
ENST00000684087.1:c.631+258_631+259del ENSP00000506978.1:n.631+258_631+259del
ENST00000684700.1:c.*184_*185del ENSP00000507806.1:n.*184_*185del
ENST00000506362.2:c.382+258_382+259del ENSP00000424103.2:n.382+258_382+259del
ENST00000673642.1:c.430+258_430+259del ENSP00000501242.1:n.430+258_430+259del
ENST00000673991.1:c.631+258_631+259del ENSP00000501033.1:n.631+258_631+259del
ENST00000226760.5:c.631+258_631+259del MANE Select ENSP00000226760.1:n.631+258_631+259del
ENST00000503569.5:c.631+258_631+259del ENSP00000423337.1:n.631+258_631+259del
ENST00000506362.1:c.228+258_228+259del
ENST00000507765.1:n.816+258_816+259del
NM_001145853.1:c.631+258_631+259del NP_001139325.1:n.631+258_631+259del
NM_006005.3:c.631+258_631+259del MANE Select NP_005996.2:n.631+258_631+259del
XM_017008586.1:c.640+258_640+259del XP_016864075.1:n.640+258_640+259del