Canonical Allele Identifier: CA2669826003

Gene: WFS1

Linked Data

• gnomAD v4: 4-6291410-GCCTTCCCACAGGAGCCAGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291419_6291438del , CM000666.2:g.6291419_6291438del	GRCh38
NC_000004.11:g.6293146_6293165del , CM000666.1:g.6293146_6293165del	GRCh37
NC_000004.10:g.6344047_6344066del	NCBI36
NG_011700.1:g.26570_26589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+52_631+71del	ENSP00000507852.1:n.631+52_631+71del
ENST00000683395.1:c.608+65_608+84del
ENST00000684087.1:c.631+52_631+71del	ENSP00000506978.1:n.631+52_631+71del
ENST00000684700.1:c.683_702del	ENSP00000507806.1:p.Thr228IlefsTer?
ENST00000506362.2:c.382+52_382+71del	ENSP00000424103.2:n.382+52_382+71del
ENST00000673642.1:c.430+52_430+71del	ENSP00000501242.1:n.430+52_430+71del
ENST00000673991.1:c.631+52_631+71del	ENSP00000501033.1:n.631+52_631+71del
ENST00000226760.5:c.631+52_631+71del MANE Select	ENSP00000226760.1:n.631+52_631+71del
ENST00000503569.5:c.631+52_631+71del	ENSP00000423337.1:n.631+52_631+71del
ENST00000506362.1:c.228+52_228+71del
ENST00000507765.1:n.816+52_816+71del
NM_001145853.1:c.631+52_631+71del	NP_001139325.1:n.631+52_631+71del
NM_006005.3:c.631+52_631+71del MANE Select	NP_005996.2:n.631+52_631+71del
XM_017008586.1:c.640+52_640+71del	XP_016864075.1:n.640+52_640+71del