Canonical Allele Identifier: CA2669843465

Gene: WFS1

Linked Data

• gnomAD v4: 4-6302174-C-CGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302180_6302182dup , CM000666.2:g.6302180_6302182dup	GRCh38
NC_000004.11:g.6303907_6303909dup , CM000666.1:g.6303907_6303909dup	GRCh37
NC_000004.10:g.6354808_6354810dup	NCBI36
NG_011700.1:g.37331_37333dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2421_2423dup	ENSP00000507852.1:p.Glu807_Asp808insGlu
ENST00000683395.1:c.2362_2364dup
ENST00000684087.1:c.2385_2387dup	ENSP00000506978.1:p.Glu795_Asp796insGlu
ENST00000506362.2:c.2136_2138dup	ENSP00000424103.2:p.Glu712_Asp713insGlu
ENST00000673991.1:c.2421_2423dup	ENSP00000501033.1:p.Glu807_Asp808insGlu
ENST00000226760.5:c.2385_2387dup MANE Select	ENSP00000226760.1:p.Glu795_Asp796insGlu
ENST00000503569.5:c.2385_2387dup	ENSP00000423337.1:p.Glu795_Asp796insGlu
ENST00000507765.1:n.2570_2572dup
NM_001145853.1:c.2385_2387dup	NP_001139325.1:p.Glu795_Asp796insGlu
NM_006005.3:c.2385_2387dup MANE Select	NP_005996.2:p.Glu795_Asp796insGlu
XM_017008586.1:c.2394_2396dup	XP_016864075.1:p.Glu798_Asp799insGlu