Canonical Allele Identifier: CA2838966

Gene: WFS1

Linked Data

• dbSNP Id: rs768793669
• ExAC: 4:6293116 ACCAGCCTTCCCTGGGCG / A
• gnomAD v2: 4-6293116-ACCAGCCTTCCCTGGGCG-A
• gnomAD v3: 4-6291389-ACCAGCCTTCCCTGGGCG-A
• gnomAD v4: 4-6291389-ACCAGCCTTCCCTGGGCG-A
• MyVariant Identifiers: chr4:g.6293117_6293133del (hg19) ; chr4:g.6291390_6291406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291401_6291417del , CM000666.2:g.6291401_6291417del	GRCh38
NC_000004.11:g.6293128_6293144del , CM000666.1:g.6293128_6293144del	GRCh37
NC_000004.10:g.6344029_6344045del	NCBI36
NG_011700.1:g.26552_26568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.631+34_631+50del	ENSP00000507852.1:n.631+34_631+50del
ENST00000683395.1:c.608+47_608+63del
ENST00000684087.1:c.631+34_631+50del	ENSP00000506978.1:n.631+34_631+50del
ENST00000684700.1:c.665_681del	ENSP00000507806.1:p.Leu222HisfsTer?
ENST00000506362.2:c.382+34_382+50del	ENSP00000424103.2:n.382+34_382+50del
ENST00000673642.1:c.430+34_430+50del	ENSP00000501242.1:n.430+34_430+50del
ENST00000673991.1:c.631+34_631+50del	ENSP00000501033.1:n.631+34_631+50del
ENST00000226760.5:c.631+34_631+50del MANE Select	ENSP00000226760.1:n.631+34_631+50del
ENST00000503569.5:c.631+34_631+50del	ENSP00000423337.1:n.631+34_631+50del
ENST00000506362.1:c.228+34_228+50del
ENST00000507765.1:n.816+34_816+50del
NM_001145853.1:c.631+34_631+50del	NP_001139325.1:n.631+34_631+50del
NM_006005.3:c.631+34_631+50del MANE Select	NP_005996.2:n.631+34_631+50del
XM_017008586.1:c.640+34_640+50del	XP_016864075.1:n.640+34_640+50del