Canonical Allele Identifier: CA277309

Gene: WFS1

Linked Data

• ClinVar Variation Id: 212612
• ClinVar RCV Id: RCV000194382 ; RCV001824671 ; RCV001762414 ; RCV002503760
• dbSNP Id: rs797046113
• ExAC: 4:6303210 ACTTCCT / A
• gnomAD v2: 4-6303210-ACTTCCT-A
• gnomAD v3: 4-6301483-ACTTCCT-A
• gnomAD v4: 4-6301483-ACTTCCT-A
• MyVariant Identifiers: chr4:g.6303220_6303225del (hg19) ; chr4:g.6303211_6303216del (hg19) ; chr4:g.6301493_6301498del (hg38) ; chr4:g.6301485_6301490del (hg38) ; chr4:g.6301484_6301489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301493_6301498del , CM000666.2:g.6301493_6301498del	GRCh38
NC_000004.11:g.6303220_6303225del , CM000666.1:g.6303220_6303225del	GRCh37
NC_000004.10:g.6354121_6354126del	NCBI36
NG_011700.1:g.36644_36649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1734_1739del	ENSP00000507852.1:p.Leu579_Phe580del
ENST00000683395.1:c.1675_1680del
ENST00000684087.1:c.1698_1703del	ENSP00000506978.1:p.Leu567_Phe568del
ENST00000506362.2:c.1449_1454del	ENSP00000424103.2:p.Leu484_Phe485del
ENST00000673642.1:c.1357_1362del	ENSP00000501242.1:n.1357_1362del
ENST00000673991.1:c.1734_1739del	ENSP00000501033.1:p.Leu579_Phe580del
ENST00000226760.5:c.1698_1703del MANE Select	ENSP00000226760.1:p.Leu567_Phe568del
ENST00000503569.5:c.1698_1703del	ENSP00000423337.1:p.Leu567_Phe568del
ENST00000507765.1:n.1883_1888del
NM_001145853.1:c.1698_1703del	NP_001139325.1:p.Leu567_Phe568del
NM_006005.3:c.1698_1703del MANE Select	NP_005996.2:p.Leu567_Phe568del
XM_017008586.1:c.1707_1712del	XP_016864075.1:p.Leu570_Phe571del