Canonical Allele Identifier: CA2560923221
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71570750_71570751insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT , CM000664.2:g.71570750_71570751insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT GRCh38
NC_000002.11:g.71797880_71797881insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT , CM000664.1:g.71797880_71797881insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT GRCh37
NC_000002.10:g.71651388_71651389insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NCBI36
NG_008694.1:g.122128_122129insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.600+9_600+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000513536.1:n.600+9_600+10insTCCTTACGGTCGACTTTCTAGTCGCT...
ENST00000258104.8:c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Plus Clinical ENSP00000258104.3:n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000410020.8:c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Select ENSP00000386881.3:n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000258104.7:c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000258104.3:n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000394120.6:c.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000377678.2:n.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000409366.5:c.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000386512.1:n.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000409582.7:c.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000386547.3:n.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000409651.5:c.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000386683.1:n.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000409744.5:c.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000386285.1:n.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000409762.5:c.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000387137.1:n.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000410020.7:c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000386881.3:n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000410041.1:c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000386617.1:n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000413539.6:c.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000407046.2:n.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000429174.6:c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT ENSP00000398305.2:n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCG...
ENST00000461565.1:n.349_350insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT
NM_001130455.1:c.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001123927.1:n.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130976.1:c.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124448.1:n.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130977.1:c.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124449.1:n.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130978.1:c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124450.1:n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130979.1:c.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124451.1:n.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130980.1:c.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124452.1:n.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130981.1:c.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124453.1:n.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130982.1:c.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124454.1:n.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130983.1:c.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124455.1:n.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130984.1:c.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124456.1:n.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130985.1:c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124457.1:n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130986.1:c.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124458.1:n.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130987.1:c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124459.1:n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_003494.3:c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_003485.1:n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCA...
XM_005264584.3:c.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT XP_005264641.1:n.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
XM_005264585.3:c.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT XP_005264642.1:n.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
XM_005264584.4:c.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT XP_005264641.1:n.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
XM_005264585.5:c.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT XP_005264642.1:n.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
XR_001738969.1:n.3428+9_3428+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT
NM_001130987.2:c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Select NP_001124459.1:n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130455.2:c.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001123927.1:n.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130976.2:c.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124448.1:n.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130977.2:c.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124449.1:n.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130978.2:c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124450.1:n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130979.2:c.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124451.1:n.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130980.2:c.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124452.1:n.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130981.2:c.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124453.1:n.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130982.2:c.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124454.1:n.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130983.2:c.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124455.1:n.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130984.2:c.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124456.1:n.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130985.2:c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124457.1:n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_001130986.2:c.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT NP_001124458.1:n.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTC...
NM_003494.4:c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Plus Clinical NP_003485.1:n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCA...