Canonical Allele Identifier: CA2839453

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2502815
• ClinVar RCV Id: RCV003229488
• dbSNP Id: rs774416127
• ExAC: 4:6303220 CCTCTTT / C
• gnomAD v2: 4-6303220-CCTCTTT-C
• gnomAD v3: 4-6301493-CCTCTTT-C
• gnomAD v4: 4-6301493-CCTCTTT-C
• MyVariant Identifiers: chr4:g.6303221_6303226del (hg19) ; chr4:g.6301494_6301499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301494_6301499del , CM000666.2:g.6301494_6301499del	GRCh38
NC_000004.11:g.6303221_6303226del , CM000666.1:g.6303221_6303226del	GRCh37
NC_000004.10:g.6354122_6354127del	NCBI36
NG_011700.1:g.36645_36650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1735_1740del	ENSP00000507852.1:p.Leu579_Phe580del
ENST00000683395.1:c.1676_1681del
ENST00000684087.1:c.1699_1704del	ENSP00000506978.1:p.Leu567_Phe568del
ENST00000506362.2:c.1450_1455del	ENSP00000424103.2:p.Leu484_Phe485del
ENST00000673642.1:c.1358_1363del	ENSP00000501242.1:n.1358_1363del
ENST00000673991.1:c.1735_1740del	ENSP00000501033.1:p.Leu579_Phe580del
ENST00000226760.5:c.1699_1704del MANE Select	ENSP00000226760.1:p.Leu567_Phe568del
ENST00000503569.5:c.1699_1704del	ENSP00000423337.1:p.Leu567_Phe568del
ENST00000507765.1:n.1884_1889del
NM_001145853.1:c.1699_1704del	NP_001139325.1:p.Leu567_Phe568del
NM_006005.3:c.1699_1704del MANE Select	NP_005996.2:p.Leu567_Phe568del
XM_017008586.1:c.1708_1713del	XP_016864075.1:p.Leu570_Phe571del