Canonical Allele Identifier: CA323327

Gene: WFS1

Linked Data

• ClinVar Variation Id: 3018264
• ClinVar RCV Id: RCV003876927
• dbSNP Id: rs1553878984
• MyVariant Identifiers: chr4:g.6303881_6303882delinsAA (hg19) ; chr4:g.6302154_6302155delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302154_6302155delinsAA , CM000666.2:g.6302154_6302155delinsAA	GRCh38
NC_000004.11:g.6303881_6303882delinsAA , CM000666.1:g.6303881_6303882delinsAA	GRCh37
NC_000004.10:g.6354782_6354783delinsAA	NCBI36
NG_011700.1:g.37305_37306delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2395_2396delinsAA	ENSP00000507852.1:p.Ala799Asn
ENST00000683395.1:c.2336_2337delinsAA
ENST00000684087.1:c.2359_2360delinsAA	ENSP00000506978.1:p.Ala787Asn
ENST00000506362.2:c.2110_2111delinsAA	ENSP00000424103.2:p.Ala704Asn
ENST00000673991.1:c.2395_2396delinsAA	ENSP00000501033.1:p.Ala799Asn
ENST00000226760.5:c.2359_2360delinsAA MANE Select	ENSP00000226760.1:p.Ala787Asn
ENST00000503569.5:c.2359_2360delinsAA	ENSP00000423337.1:p.Ala787Asn
ENST00000507765.1:n.2544_2545delinsAA
NM_001145853.1:c.2359_2360delinsAA	NP_001139325.1:p.Ala787Asn
NM_006005.3:c.2359_2360delinsAA MANE Select	NP_005996.2:p.Ala787Asn
XM_017008586.1:c.2368_2369delinsAA	XP_016864075.1:p.Ala790Asn