Canonical Allele Identifier: CA797205954

Gene: WFS1

Linked Data

• dbSNP Id: rs1488006824
• gnomAD v4: 4-6300667-A-AC
• MyVariant Identifiers: chr4:g.6302394_6302395insC (hg19) ; chr4:g.6300667_6300668insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300672dup , CM000666.2:g.6300672dup	GRCh38
NC_000004.11:g.6302399dup , CM000666.1:g.6302399dup	GRCh37
NC_000004.10:g.6353300dup	NCBI36
NG_011700.1:g.35823dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.913dup	ENSP00000507852.1:p.Leu305ProfsTer13
ENST00000683395.1:c.854dup
ENST00000684087.1:c.877dup	ENSP00000506978.1:p.Leu293ProfsTer13
ENST00000506362.2:c.628dup	ENSP00000424103.2:p.Leu210ProfsTer13
ENST00000673642.1:c.661-125dup	ENSP00000501242.1:n.661-125dup
ENST00000673991.1:c.913dup	ENSP00000501033.1:p.Leu305ProfsTer13
ENST00000226760.5:c.877dup MANE Select	ENSP00000226760.1:p.Leu293ProfsTer13
ENST00000503569.5:c.877dup	ENSP00000423337.1:p.Leu293ProfsTer13
ENST00000506362.1:c.510dup
ENST00000507765.1:n.1062dup
ENST00000513395.1:n.435dup
NM_001145853.1:c.877dup	NP_001139325.1:p.Leu293ProfsTer13
NM_006005.3:c.877dup MANE Select	NP_005996.2:p.Leu293ProfsTer13
XM_017008586.1:c.886dup	XP_016864075.1:p.Leu296ProfsTer13