Canonical Allele Identifier: CA1435772583
Gene: WFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301028_6301037delinsTGTCTTCTTC , CM000666.2:g.6301028_6301037delinsTGTCTTCTTC GRCh38
NC_000004.11:g.6302755_6302764delinsTGTCTTCTTC , CM000666.1:g.6302755_6302764delinsTGTCTTCTTC GRCh37
NC_000004.10:g.6353656_6353665delinsTGTCTTCTTC NCBI36
NG_011700.1:g.36179_36188delinsTGTCTTCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1269_1278delinsTGTCTTCTTC ENSP00000507852.1:p.Ser423=
ENST00000683395.1:c.1210_1219delinsTGTCTTCTTC
ENST00000684087.1:c.1233_1242delinsTGTCTTCTTC ENSP00000506978.1:p.Ser411=
ENST00000506362.2:c.984_993delinsTGTCTTCTTC ENSP00000424103.2:p.Ser328=
ENST00000673642.1:c.892_901delinsTGTCTTCTTC ENSP00000501242.1:p.Cys298=
ENST00000673991.1:c.1269_1278delinsTGTCTTCTTC ENSP00000501033.1:p.Ser423=
ENST00000226760.5:c.1233_1242delinsTGTCTTCTTC MANE Select ENSP00000226760.1:p.Ser411=
ENST00000503569.5:c.1233_1242delinsTGTCTTCTTC ENSP00000423337.1:p.Ser411=
ENST00000507765.1:n.1418_1427delinsTGTCTTCTTC
NM_001145853.1:c.1233_1242delinsTGTCTTCTTC NP_001139325.1:p.Ser411=
NM_006005.3:c.1233_1242delinsTGTCTTCTTC MANE Select NP_005996.2:p.Ser411=
XM_017008586.1:c.1242_1251delinsTGTCTTCTTC XP_016864075.1:p.Ser414=