Canonical Allele Identifier: CA797127878

Gene: WFS1

Linked Data

• dbSNP Id: rs1305796072
• gnomAD v4: 4-6291379-C-CACCCTGGGCACCAGCCT
• MyVariant Identifiers: chr4:g.6293106_6293107insACCCTGGGCACCAGCCT (hg19) ; chr4:g.6291379_6291380insACCCTGGGCACCAGCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291380_6291396dup , CM000666.2:g.6291380_6291396dup	GRCh38
NC_000004.11:g.6293107_6293123dup , CM000666.1:g.6293107_6293123dup	GRCh37
NC_000004.10:g.6344008_6344024dup	NCBI36
NG_011700.1:g.26531_26547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.631+13_631+29dup	ENSP00000507852.1:n.631+13_631+29dup
ENST00000683395.1:c.608+26_608+42dup
ENST00000684087.1:c.631+13_631+29dup	ENSP00000506978.1:n.631+13_631+29dup
ENST00000684700.1:c.644_660dup	ENSP00000507806.1:p.Ser221ThrfsTer?
ENST00000506362.2:c.382+13_382+29dup	ENSP00000424103.2:n.382+13_382+29dup
ENST00000673642.1:c.430+13_430+29dup	ENSP00000501242.1:n.430+13_430+29dup
ENST00000673991.1:c.631+13_631+29dup	ENSP00000501033.1:n.631+13_631+29dup
ENST00000226760.5:c.631+13_631+29dup MANE Select	ENSP00000226760.1:n.631+13_631+29dup
ENST00000503569.5:c.631+13_631+29dup	ENSP00000423337.1:n.631+13_631+29dup
ENST00000506362.1:c.228+13_228+29dup
ENST00000507765.1:n.816+13_816+29dup
NM_001145853.1:c.631+13_631+29dup	NP_001139325.1:n.631+13_631+29dup
NM_006005.3:c.631+13_631+29dup MANE Select	NP_005996.2:n.631+13_631+29dup
XM_017008586.1:c.640+13_640+29dup	XP_016864075.1:n.640+13_640+29dup