Canonical Allele Identifier: CA1260152263
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669265G= , CM000664.2:g.71669265G= GRCh38
NC_000002.11:g.71896395G= , CM000664.1:g.71896395G= GRCh37
NC_000002.10:g.71749903G= NCBI36
NG_008694.1:g.220643G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3056+58G= ENSP00000513536.1:n.3056+58G=
ENST00000698058.1:c.2273+58G= ENSP00000513537.1:n.2273+58G=
ENST00000698059.1:c.2381+58G= ENSP00000513538.1:n.2381+58G=
ENST00000258104.8:c.5525+58G= MANE Plus Clinical ENSP00000258104.3:n.5525+58G=
ENST00000410020.8:c.5642+58G= MANE Select ENSP00000386881.3:n.5642+58G=
ENST00000258104.7:c.5525+58G= ENSP00000258104.3:n.5525+58G=
ENST00000394120.6:c.5528+58G= ENSP00000377678.2:n.5528+58G=
ENST00000409366.5:c.5591+58G= ENSP00000386512.1:n.5591+58G=
ENST00000409582.7:c.5639+58G= ENSP00000386547.3:n.5639+58G=
ENST00000409651.5:c.5621+58G= ENSP00000386683.1:n.5621+58G=
ENST00000409744.5:c.5549+58G= ENSP00000386285.1:n.5549+58G=
ENST00000409762.5:c.5576+58G= ENSP00000387137.1:n.5576+58G=
ENST00000410020.7:c.5642+58G= ENSP00000386881.3:n.5642+58G=
ENST00000410041.1:c.5579+58G= ENSP00000386617.1:n.5579+58G=
ENST00000413539.6:c.5618+58G= ENSP00000407046.2:n.5618+58G=
ENST00000429174.6:c.5588+58G= ENSP00000398305.2:n.5588+58G=
ENST00000479049.6:n.2410+58G=
NM_001130455.1:c.5528+58G= NP_001123927.1:n.5528+58G=
NM_001130976.1:c.5483+58G= NP_001124448.1:n.5483+58G=
NM_001130977.1:c.5546+58G= NP_001124449.1:n.5546+58G=
NM_001130978.1:c.5588+58G= NP_001124450.1:n.5588+58G=
NM_001130979.1:c.5618+58G= NP_001124451.1:n.5618+58G=
NM_001130980.1:c.5576+58G= NP_001124452.1:n.5576+58G=
NM_001130981.1:c.5639+58G= NP_001124453.1:n.5639+58G=
NM_001130982.1:c.5621+58G= NP_001124454.1:n.5621+58G=
NM_001130983.1:c.5591+58G= NP_001124455.1:n.5591+58G=
NM_001130984.1:c.5549+58G= NP_001124456.1:n.5549+58G=
NM_001130985.1:c.5579+58G= NP_001124457.1:n.5579+58G=
NM_001130986.1:c.5486+58G= NP_001124458.1:n.5486+58G=
NM_001130987.1:c.5642+58G= NP_001124459.1:n.5642+58G=
NM_003494.3:c.5525+58G= NP_003485.1:n.5525+58G=
XM_005264584.3:c.5684+58G= XP_005264641.1:n.5684+58G=
XM_005264585.3:c.5681+58G= XP_005264642.1:n.5681+58G=
XM_005264584.4:c.5684+58G= XP_005264641.1:n.5684+58G=
XM_005264585.5:c.5681+58G= XP_005264642.1:n.5681+58G=
NM_001130987.2:c.5642+58G= MANE Select NP_001124459.1:n.5642+58G=
NM_001130455.2:c.5528+58G= NP_001123927.1:n.5528+58G=
NM_001130976.2:c.5483+58G= NP_001124448.1:n.5483+58G=
NM_001130977.2:c.5546+58G= NP_001124449.1:n.5546+58G=
NM_001130978.2:c.5588+58G= NP_001124450.1:n.5588+58G=
NM_001130979.2:c.5618+58G= NP_001124451.1:n.5618+58G=
NM_001130980.2:c.5576+58G= NP_001124452.1:n.5576+58G=
NM_001130981.2:c.5639+58G= NP_001124453.1:n.5639+58G=
NM_001130982.2:c.5621+58G= NP_001124454.1:n.5621+58G=
NM_001130983.2:c.5591+58G= NP_001124455.1:n.5591+58G=
NM_001130984.2:c.5549+58G= NP_001124456.1:n.5549+58G=
NM_001130985.2:c.5579+58G= NP_001124457.1:n.5579+58G=
NM_001130986.2:c.5486+58G= NP_001124458.1:n.5486+58G=
NM_003494.4:c.5525+58G= MANE Plus Clinical NP_003485.1:n.5525+58G=