Canonical Allele Identifier: CA91794656
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs778538206
gnomAD v2: 4-6293539-CT-C
gnomAD v3: 4-6291812-CT-C
gnomAD v4: 4-6291812-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291813del , CM000666.2:g.6291813del GRCh38
NC_000004.11:g.6293540del , CM000666.1:g.6293540del GRCh37
NC_000004.10:g.6344441del NCBI36
NG_011700.1:g.26964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.632-104del ENSP00000507852.1:n.632-104del
ENST00000683395.1:c.609-104del
ENST00000684087.1:c.632-104del ENSP00000506978.1:n.632-104del
ENST00000506362.2:c.383-104del ENSP00000424103.2:n.383-104del
ENST00000673642.1:c.431-104del ENSP00000501242.1:n.431-104del
ENST00000673991.1:c.632-104del ENSP00000501033.1:n.632-104del
ENST00000226760.5:c.632-104del MANE Select ENSP00000226760.1:n.632-104del
ENST00000503569.5:c.632-104del ENSP00000423337.1:n.632-104del
ENST00000506362.1:c.229-104del
ENST00000507765.1:n.817-104del
NM_001145853.1:c.632-104del NP_001139325.1:n.632-104del
NM_006005.3:c.632-104del MANE Select NP_005996.2:n.632-104del
XM_017008586.1:c.641-104del XP_016864075.1:n.641-104del