Canonical Allele Identifier: CA1058889116

Gene: WFS1

Linked Data

• gnomAD v3: 4-6292018-GTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTA-G
• gnomAD v4: 4-6292018-GTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6292027_6292101del , CM000666.2:g.6292027_6292101del	GRCh38
NC_000004.11:g.6293754_6293828del , CM000666.1:g.6293754_6293828del	GRCh37
NC_000004.10:g.6344655_6344729del	NCBI36
NG_011700.1:g.27178_27252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.712+30_712+104del	ENSP00000507852.1:n.712+30_712+104del
ENST00000683395.1:c.689+30_689+104del
ENST00000684087.1:c.712+30_712+104del	ENSP00000506978.1:n.712+30_712+104del
ENST00000506362.2:c.463+30_463+104del	ENSP00000424103.2:n.463+30_463+104del
ENST00000673642.1:c.511+30_511+104del	ENSP00000501242.1:n.511+30_511+104del
ENST00000673991.1:c.712+30_712+104del	ENSP00000501033.1:n.712+30_712+104del
ENST00000226760.5:c.712+30_712+104del MANE Select	ENSP00000226760.1:n.712+30_712+104del
ENST00000503569.5:c.712+30_712+104del	ENSP00000423337.1:n.712+30_712+104del
ENST00000506362.1:c.309+30_309+104del
ENST00000507765.1:n.897+30_897+104del
NM_001145853.1:c.712+30_712+104del	NP_001139325.1:n.712+30_712+104del
NM_006005.3:c.712+30_712+104del MANE Select	NP_005996.2:n.712+30_712+104del
XM_017008586.1:c.721+30_721+104del	XP_016864075.1:n.721+30_721+104del