Canonical Allele Identifier: CA324155
Gene: WFS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302438_6302439del , CM000666.2:g.6302438_6302439del GRCh38
NC_000004.11:g.6304165_6304166del , CM000666.1:g.6304165_6304166del GRCh37
NC_000004.10:g.6355066_6355067del NCBI36
NG_011700.1:g.37589_37590del

Transcript Alleles

HGVS Amino-acid Change
NM_006005.3:c.2643_2644del MANE Select NP_005996.2:p.Phe883LeufsTer?
ENST00000226760.5:c.2643_2644del MANE Select ENSP00000226760.1:p.Phe883LeufsTer?
NM_001145853.1:c.2643_2644del NP_001139325.1:p.Phe883LeufsTer?
ENST00000503569.5:c.2643_2644del ENSP00000423337.1:p.Phe883LeufsTer?
ENST00000506362.2:c.2394_2395del ENSP00000424103.2:p.Phe800LeufsTer?
ENST00000507765.1:n.2828_2829del
ENST00000673991.1:c.2679_2680del ENSP00000501033.1:p.Phe895LeufsTer?
ENST00000682275.1:c.2679_2680del ENSP00000507852.1:p.Phe895LeufsTer?
ENST00000683395.1:c.2620_2621del
ENST00000684087.1:c.2643_2644del ENSP00000506978.1:p.Phe883LeufsTer?
XM_017008586.1:c.2652_2653del XP_016864075.1:p.Phe886LeufsTer?
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