Canonical Allele Identifier: CA49769095
Gene: DYSF HGNC NCBI

Linked Data

dbSNP Id: rs936962025

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71669286dup , CM000664.2:g.71669286dup GRCh38
NC_000002.11:g.71896416dup , CM000664.1:g.71896416dup GRCh37
NC_000002.10:g.71749924dup NCBI36
NG_008694.1:g.220664dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3056+79dup ENSP00000513536.1:n.3056+79dup
ENST00000698058.1:c.2273+79dup ENSP00000513537.1:n.2273+79dup
ENST00000698059.1:c.2381+79dup ENSP00000513538.1:n.2381+79dup
ENST00000258104.8:c.5525+79dup MANE Plus Clinical ENSP00000258104.3:n.5525+79dup
ENST00000410020.8:c.5642+79dup MANE Select ENSP00000386881.3:n.5642+79dup
ENST00000258104.7:c.5525+79dup ENSP00000258104.3:n.5525+79dup
ENST00000394120.6:c.5528+79dup ENSP00000377678.2:n.5528+79dup
ENST00000409366.5:c.5591+79dup ENSP00000386512.1:n.5591+79dup
ENST00000409582.7:c.5639+79dup ENSP00000386547.3:n.5639+79dup
ENST00000409651.5:c.5621+79dup ENSP00000386683.1:n.5621+79dup
ENST00000409744.5:c.5549+79dup ENSP00000386285.1:n.5549+79dup
ENST00000409762.5:c.5576+79dup ENSP00000387137.1:n.5576+79dup
ENST00000410020.7:c.5642+79dup ENSP00000386881.3:n.5642+79dup
ENST00000410041.1:c.5579+79dup ENSP00000386617.1:n.5579+79dup
ENST00000413539.6:c.5618+79dup ENSP00000407046.2:n.5618+79dup
ENST00000429174.6:c.5588+79dup ENSP00000398305.2:n.5588+79dup
ENST00000479049.6:n.2410+79dup
NM_001130455.1:c.5528+79dup NP_001123927.1:n.5528+79dup
NM_001130976.1:c.5483+79dup NP_001124448.1:n.5483+79dup
NM_001130977.1:c.5546+79dup NP_001124449.1:n.5546+79dup
NM_001130978.1:c.5588+79dup NP_001124450.1:n.5588+79dup
NM_001130979.1:c.5618+79dup NP_001124451.1:n.5618+79dup
NM_001130980.1:c.5576+79dup NP_001124452.1:n.5576+79dup
NM_001130981.1:c.5639+79dup NP_001124453.1:n.5639+79dup
NM_001130982.1:c.5621+79dup NP_001124454.1:n.5621+79dup
NM_001130983.1:c.5591+79dup NP_001124455.1:n.5591+79dup
NM_001130984.1:c.5549+79dup NP_001124456.1:n.5549+79dup
NM_001130985.1:c.5579+79dup NP_001124457.1:n.5579+79dup
NM_001130986.1:c.5486+79dup NP_001124458.1:n.5486+79dup
NM_001130987.1:c.5642+79dup NP_001124459.1:n.5642+79dup
NM_003494.3:c.5525+79dup NP_003485.1:n.5525+79dup
XM_005264584.3:c.5684+79dup XP_005264641.1:n.5684+79dup
XM_005264585.3:c.5681+79dup XP_005264642.1:n.5681+79dup
XM_005264584.4:c.5684+79dup XP_005264641.1:n.5684+79dup
XM_005264585.5:c.5681+79dup XP_005264642.1:n.5681+79dup
NM_001130987.2:c.5642+79dup MANE Select NP_001124459.1:n.5642+79dup
NM_001130455.2:c.5528+79dup NP_001123927.1:n.5528+79dup
NM_001130976.2:c.5483+79dup NP_001124448.1:n.5483+79dup
NM_001130977.2:c.5546+79dup NP_001124449.1:n.5546+79dup
NM_001130978.2:c.5588+79dup NP_001124450.1:n.5588+79dup
NM_001130979.2:c.5618+79dup NP_001124451.1:n.5618+79dup
NM_001130980.2:c.5576+79dup NP_001124452.1:n.5576+79dup
NM_001130981.2:c.5639+79dup NP_001124453.1:n.5639+79dup
NM_001130982.2:c.5621+79dup NP_001124454.1:n.5621+79dup
NM_001130983.2:c.5591+79dup NP_001124455.1:n.5591+79dup
NM_001130984.2:c.5549+79dup NP_001124456.1:n.5549+79dup
NM_001130985.2:c.5579+79dup NP_001124457.1:n.5579+79dup
NM_001130986.2:c.5486+79dup NP_001124458.1:n.5486+79dup
NM_003494.4:c.5525+79dup MANE Plus Clinical NP_003485.1:n.5525+79dup