Canonical Allele Identifier: CA549707895

Gene: WFS1

Linked Data

• dbSNP Id: rs1416284572
• gnomAD v2: 4-6302571-TCTAC-T
• gnomAD v4: 4-6300844-TCTAC-T
• MyVariant Identifiers: chr4:g.6302572_6302575del (hg19) ; chr4:g.6300845_6300848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300847_6300850del , CM000666.2:g.6300847_6300850del	GRCh38
NC_000004.11:g.6302574_6302577del , CM000666.1:g.6302574_6302577del	GRCh37
NC_000004.10:g.6353475_6353478del	NCBI36
NG_011700.1:g.35998_36001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1088_1091del	ENSP00000507852.1:p.Tyr363CysfsTer7
ENST00000683395.1:c.1029_1032del
ENST00000684087.1:c.1052_1055del	ENSP00000506978.1:p.Tyr351CysfsTer7
ENST00000506362.2:c.803_806del	ENSP00000424103.2:p.Tyr268CysfsTer7
ENST00000673642.1:c.711_714del	ENSP00000501242.1:p.Pro238SerfsTer?
ENST00000673991.1:c.1088_1091del	ENSP00000501033.1:p.Tyr363CysfsTer7
ENST00000226760.5:c.1052_1055del MANE Select	ENSP00000226760.1:p.Tyr351CysfsTer7
ENST00000503569.5:c.1052_1055del	ENSP00000423337.1:p.Tyr351CysfsTer7
ENST00000506362.1:c.685_688del
ENST00000507765.1:n.1237_1240del
NM_001145853.1:c.1052_1055del	NP_001139325.1:p.Tyr351CysfsTer7
NM_006005.3:c.1052_1055del MANE Select	NP_005996.2:p.Tyr351CysfsTer7
XM_017008586.1:c.1061_1064del	XP_016864075.1:p.Tyr354CysfsTer7