Canonical Allele Identifier: CA2499217321
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300791_6300792delinsAA , CM000666.2:g.6300791_6300792delinsAA GRCh38
NC_000004.11:g.6302518_6302519delinsAA , CM000666.1:g.6302518_6302519delinsAA GRCh37
NC_000004.10:g.6353419_6353420delinsAA NCBI36
NG_011700.1:g.35942_35943delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1032_1033delinsAA ENSP00000507852.1:p.Val345Ile
ENST00000683395.1:c.973_974delinsAA
ENST00000684087.1:c.996_997delinsAA ENSP00000506978.1:p.Val333Ile
ENST00000506362.2:c.747_748delinsAA ENSP00000424103.2:p.Val250Ile
ENST00000673642.1:c.661-6_661-5delinsAA ENSP00000501242.1:n.661-6_661-5delinsAA
ENST00000673991.1:c.1032_1033delinsAA ENSP00000501033.1:p.Val345Ile
ENST00000226760.5:c.996_997delinsAA MANE Select ENSP00000226760.1:p.Val333Ile
ENST00000503569.5:c.996_997delinsAA ENSP00000423337.1:p.Val333Ile
ENST00000506362.1:c.629_630delinsAA
ENST00000507765.1:n.1181_1182delinsAA
ENST00000513395.1:n.554_555delinsAA
NM_001145853.1:c.996_997delinsAA NP_001139325.1:p.Val333Ile
NM_006005.3:c.996_997delinsAA MANE Select NP_005996.2:p.Val333Ile
XM_017008586.1:c.1005_1006delinsAA XP_016864075.1:p.Val336Ile