Canonical Allele Identifier: CA645526716
Community Standard Title: NM_001130987.2(DYSF):c.3806_3807delinsAA (p.Arg1269Gln)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71600751_71600752delinsAA , CM000664.2:g.71600751_71600752delinsAA GRCh38
NC_000002.11:g.71827881_71827882delinsAA , CM000664.1:g.71827881_71827882delinsAA GRCh37
NC_000002.10:g.71681389_71681390delinsAA NCBI36
NG_008694.1:g.152129_152130delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.3806_3807delinsAA MANE Select NP_001124459.1:p.Arg1269Gln
ENST00000410020.8:c.3806_3807delinsAA MANE Select ENSP00000386881.3:p.Arg1269Gln
NM_003494.4:c.3752_3753delinsAA MANE Plus Clinical NP_003485.1:p.Arg1251Gln
ENST00000258104.8:c.3752_3753delinsAA MANE Plus Clinical ENSP00000258104.3:p.Arg1251Gln
NM_001130455.1:c.3755_3756delinsAA NP_001123927.1:p.Arg1252Gln
NM_001130455.2:c.3755_3756delinsAA NP_001123927.1:p.Arg1252Gln
NM_001130976.1:c.3710_3711delinsAA NP_001124448.1:p.Arg1237Gln
NM_001130976.2:c.3710_3711delinsAA NP_001124448.1:p.Arg1237Gln
NM_001130977.1:c.3710_3711delinsAA NP_001124449.1:p.Arg1237Gln
NM_001130977.2:c.3710_3711delinsAA NP_001124449.1:p.Arg1237Gln
NM_001130978.1:c.3752_3753delinsAA NP_001124450.1:p.Arg1251Gln
NM_001130978.2:c.3752_3753delinsAA NP_001124450.1:p.Arg1251Gln
NM_001130979.1:c.3845_3846delinsAA NP_001124451.1:p.Arg1282Gln
NM_001130979.2:c.3845_3846delinsAA NP_001124451.1:p.Arg1282Gln
NM_001130980.1:c.3803_3804delinsAA NP_001124452.1:p.Arg1268Gln
NM_001130980.2:c.3803_3804delinsAA NP_001124452.1:p.Arg1268Gln
NM_001130981.1:c.3803_3804delinsAA NP_001124453.1:p.Arg1268Gln
NM_001130981.2:c.3803_3804delinsAA NP_001124453.1:p.Arg1268Gln
NM_001130982.1:c.3848_3849delinsAA NP_001124454.1:p.Arg1283Gln
NM_001130982.2:c.3848_3849delinsAA NP_001124454.1:p.Arg1283Gln
NM_001130983.1:c.3755_3756delinsAA NP_001124455.1:p.Arg1252Gln
NM_001130983.2:c.3755_3756delinsAA NP_001124455.1:p.Arg1252Gln
NM_001130984.1:c.3713_3714delinsAA NP_001124456.1:p.Arg1238Gln
NM_001130984.2:c.3713_3714delinsAA NP_001124456.1:p.Arg1238Gln
NM_001130985.1:c.3806_3807delinsAA NP_001124457.1:p.Arg1269Gln
NM_001130985.2:c.3806_3807delinsAA NP_001124457.1:p.Arg1269Gln
NM_001130986.1:c.3713_3714delinsAA NP_001124458.1:p.Arg1238Gln
NM_001130986.2:c.3713_3714delinsAA NP_001124458.1:p.Arg1238Gln
NM_001130987.1:c.3806_3807delinsAA NP_001124459.1:p.Arg1269Gln
NM_003494.3:c.3752_3753delinsAA NP_003485.1:p.Arg1251Gln
ENST00000258104.7:c.3752_3753delinsAA ENSP00000258104.3:p.Arg1251Gln
ENST00000394120.6:c.3755_3756delinsAA ENSP00000377678.2:p.Arg1252Gln
ENST00000409366.5:c.3755_3756delinsAA ENSP00000386512.1:p.Arg1252Gln
ENST00000409582.7:c.3803_3804delinsAA ENSP00000386547.3:p.Arg1268Gln
ENST00000409651.5:c.3848_3849delinsAA ENSP00000386683.1:p.Arg1283Gln
ENST00000409744.5:c.3713_3714delinsAA ENSP00000386285.1:p.Arg1238Gln
ENST00000409762.5:c.3803_3804delinsAA ENSP00000387137.1:p.Arg1268Gln
ENST00000410020.7:c.3806_3807delinsAA ENSP00000386881.3:p.Arg1269Gln
ENST00000410041.1:c.3806_3807delinsAA ENSP00000386617.1:p.Arg1269Gln
ENST00000413539.6:c.3845_3846delinsAA ENSP00000407046.2:p.Arg1282Gln
ENST00000429174.6:c.3752_3753delinsAA ENSP00000398305.2:p.Arg1251Gln
ENST00000475076.5:n.580_581delinsAA
ENST00000479049.6:n.637_638delinsAA
ENST00000493767.1:n.473_474delinsAA
ENST00000698057.1:c.1178_1179delinsAA ENSP00000513536.1:p.Arg393Gln
ENST00000698058.1:c.395_396delinsAA ENSP00000513537.1:p.Arg132Gln
ENST00000698059.1:c.395_396delinsAA ENSP00000513538.1:p.Arg132Gln
XM_005264584.3:c.3848_3849delinsAA XP_005264641.1:p.Arg1283Gln
XM_005264584.4:c.3848_3849delinsAA XP_005264641.1:p.Arg1283Gln
XM_005264585.3:c.3845_3846delinsAA XP_005264642.1:p.Arg1282Gln
XM_005264585.5:c.3845_3846delinsAA XP_005264642.1:p.Arg1282Gln
XR_001738969.1:n.4006_4007delinsAA