Canonical Allele Identifier: CA2669826271

Gene: WFS1

Linked Data

• gnomAD v4: 4-6292046-TGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6292047_6292119del , CM000666.2:g.6292047_6292119del	GRCh38
NC_000004.11:g.6293774_6293846del , CM000666.1:g.6293774_6293846del	GRCh37
NC_000004.10:g.6344675_6344747del	NCBI36
NG_011700.1:g.27198_27270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.712+50_712+122del	ENSP00000507852.1:n.712+50_712+122del
ENST00000683395.1:c.689+50_689+122del
ENST00000684087.1:c.712+50_712+122del	ENSP00000506978.1:n.712+50_712+122del
ENST00000506362.2:c.463+50_463+122del	ENSP00000424103.2:n.463+50_463+122del
ENST00000673642.1:c.511+50_511+122del	ENSP00000501242.1:n.511+50_511+122del
ENST00000673991.1:c.712+50_712+122del	ENSP00000501033.1:n.712+50_712+122del
ENST00000226760.5:c.712+50_712+122del MANE Select	ENSP00000226760.1:n.712+50_712+122del
ENST00000503569.5:c.712+50_712+122del	ENSP00000423337.1:n.712+50_712+122del
ENST00000506362.1:c.309+50_309+122del
ENST00000507765.1:n.897+50_897+122del
NM_001145853.1:c.712+50_712+122del	NP_001139325.1:n.712+50_712+122del
NM_006005.3:c.712+50_712+122del MANE Select	NP_005996.2:n.712+50_712+122del
XM_017008586.1:c.721+50_721+122del	XP_016864075.1:n.721+50_721+122del