Canonical Allele Identifier: CA2832534109
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669179dup , CM000664.2:g.71669179dup GRCh38
NC_000002.11:g.71896309dup , CM000664.1:g.71896309dup GRCh37
NC_000002.10:g.71749817dup NCBI36
NG_008694.1:g.220557dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3028dup ENSP00000513536.1:p.Glu1010GlyfsTer16
ENST00000698058.1:c.2245dup ENSP00000513537.1:p.Glu749GlyfsTer16
ENST00000698059.1:c.2353dup ENSP00000513538.1:p.Glu785GlyfsTer16
ENST00000258104.8:c.5497dup MANE Plus Clinical ENSP00000258104.3:p.Glu1833GlyfsTer16
ENST00000410020.8:c.5614dup MANE Select ENSP00000386881.3:p.Glu1872GlyfsTer16
ENST00000258104.7:c.5497dup ENSP00000258104.3:p.Glu1833GlyfsTer16
ENST00000394120.6:c.5500dup ENSP00000377678.2:p.Glu1834GlyfsTer16
ENST00000409366.5:c.5563dup ENSP00000386512.1:p.Glu1855GlyfsTer16
ENST00000409582.7:c.5611dup ENSP00000386547.3:p.Glu1871GlyfsTer16
ENST00000409651.5:c.5593dup ENSP00000386683.1:p.Glu1865GlyfsTer16
ENST00000409744.5:c.5521dup ENSP00000386285.1:p.Glu1841GlyfsTer16
ENST00000409762.5:c.5548dup ENSP00000387137.1:p.Glu1850GlyfsTer16
ENST00000410020.7:c.5614dup ENSP00000386881.3:p.Glu1872GlyfsTer16
ENST00000410041.1:c.5551dup ENSP00000386617.1:p.Glu1851GlyfsTer16
ENST00000413539.6:c.5590dup ENSP00000407046.2:p.Glu1864GlyfsTer16
ENST00000429174.6:c.5560dup ENSP00000398305.2:p.Glu1854GlyfsTer16
ENST00000479049.6:n.2382dup
NM_001130455.1:c.5500dup NP_001123927.1:p.Glu1834GlyfsTer16
NM_001130976.1:c.5455dup NP_001124448.1:p.Glu1819GlyfsTer16
NM_001130977.1:c.5518dup NP_001124449.1:p.Glu1840GlyfsTer16
NM_001130978.1:c.5560dup NP_001124450.1:p.Glu1854GlyfsTer16
NM_001130979.1:c.5590dup NP_001124451.1:p.Glu1864GlyfsTer16
NM_001130980.1:c.5548dup NP_001124452.1:p.Glu1850GlyfsTer16
NM_001130981.1:c.5611dup NP_001124453.1:p.Glu1871GlyfsTer16
NM_001130982.1:c.5593dup NP_001124454.1:p.Glu1865GlyfsTer16
NM_001130983.1:c.5563dup NP_001124455.1:p.Glu1855GlyfsTer16
NM_001130984.1:c.5521dup NP_001124456.1:p.Glu1841GlyfsTer16
NM_001130985.1:c.5551dup NP_001124457.1:p.Glu1851GlyfsTer16
NM_001130986.1:c.5458dup NP_001124458.1:p.Glu1820GlyfsTer16
NM_001130987.1:c.5614dup NP_001124459.1:p.Glu1872GlyfsTer16
NM_003494.3:c.5497dup NP_003485.1:p.Glu1833GlyfsTer16
XM_005264584.3:c.5656dup XP_005264641.1:p.Glu1886GlyfsTer16
XM_005264585.3:c.5653dup XP_005264642.1:p.Glu1885GlyfsTer16
XM_005264584.4:c.5656dup XP_005264641.1:p.Glu1886GlyfsTer16
XM_005264585.5:c.5653dup XP_005264642.1:p.Glu1885GlyfsTer16
NM_001130987.2:c.5614dup MANE Select NP_001124459.1:p.Glu1872GlyfsTer16
NM_001130455.2:c.5500dup NP_001123927.1:p.Glu1834GlyfsTer16
NM_001130976.2:c.5455dup NP_001124448.1:p.Glu1819GlyfsTer16
NM_001130977.2:c.5518dup NP_001124449.1:p.Glu1840GlyfsTer16
NM_001130978.2:c.5560dup NP_001124450.1:p.Glu1854GlyfsTer16
NM_001130979.2:c.5590dup NP_001124451.1:p.Glu1864GlyfsTer16
NM_001130980.2:c.5548dup NP_001124452.1:p.Glu1850GlyfsTer16
NM_001130981.2:c.5611dup NP_001124453.1:p.Glu1871GlyfsTer16
NM_001130982.2:c.5593dup NP_001124454.1:p.Glu1865GlyfsTer16
NM_001130983.2:c.5563dup NP_001124455.1:p.Glu1855GlyfsTer16
NM_001130984.2:c.5521dup NP_001124456.1:p.Glu1841GlyfsTer16
NM_001130985.2:c.5551dup NP_001124457.1:p.Glu1851GlyfsTer16
NM_001130986.2:c.5458dup NP_001124458.1:p.Glu1820GlyfsTer16
NM_003494.4:c.5497dup MANE Plus Clinical NP_003485.1:p.Glu1833GlyfsTer16