Canonical Allele Identifier: CA2669825997

Gene: WFS1

Linked Data

• gnomAD v4: 4-6291405-CGCCAGCCTTCCCACAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291411_6291428del , CM000666.2:g.6291411_6291428del	GRCh38
NC_000004.11:g.6293138_6293155del , CM000666.1:g.6293138_6293155del	GRCh37
NC_000004.10:g.6344039_6344056del	NCBI36
NG_011700.1:g.26562_26579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.631+44_631+61del	ENSP00000507852.1:n.631+44_631+61del
ENST00000683395.1:c.608+57_608+74del
ENST00000684087.1:c.631+44_631+61del	ENSP00000506978.1:n.631+44_631+61del
ENST00000684700.1:c.675_692del	ENSP00000507806.1:p.Ser225_Ala230del
ENST00000506362.2:c.382+44_382+61del	ENSP00000424103.2:n.382+44_382+61del
ENST00000673642.1:c.430+44_430+61del	ENSP00000501242.1:n.430+44_430+61del
ENST00000673991.1:c.631+44_631+61del	ENSP00000501033.1:n.631+44_631+61del
ENST00000226760.5:c.631+44_631+61del MANE Select	ENSP00000226760.1:n.631+44_631+61del
ENST00000503569.5:c.631+44_631+61del	ENSP00000423337.1:n.631+44_631+61del
ENST00000506362.1:c.228+44_228+61del
ENST00000507765.1:n.816+44_816+61del
NM_001145853.1:c.631+44_631+61del	NP_001139325.1:n.631+44_631+61del
NM_006005.3:c.631+44_631+61del MANE Select	NP_005996.2:n.631+44_631+61del
XM_017008586.1:c.640+44_640+61del	XP_016864075.1:n.640+44_640+61del