Canonical Allele Identifier: CA2586969585
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71551113dup , CM000664.2:g.71551113dup GRCh38
NC_000002.11:g.71778243dup , CM000664.1:g.71778243dup GRCh37
NC_000002.10:g.71631751dup NCBI36
NG_008694.1:g.102491dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.8:c.1595dup MANE Plus Clinical ENSP00000258104.3:p.Thr533HisfsTer?
ENST00000410020.8:c.1649dup MANE Select ENSP00000386881.3:p.Thr551HisfsTer?
ENST00000258104.7:c.1595dup ENSP00000258104.3:p.Thr533HisfsTer?
ENST00000394120.6:c.1598dup ENSP00000377678.2:p.Thr534HisfsTer?
ENST00000409366.5:c.1598dup ENSP00000386512.1:p.Thr534HisfsTer?
ENST00000409582.7:c.1646dup ENSP00000386547.3:p.Thr550HisfsTer?
ENST00000409651.5:c.1691dup ENSP00000386683.1:p.Thr565HisfsTer?
ENST00000409744.5:c.1556dup ENSP00000386285.1:p.Thr520HisfsTer?
ENST00000409762.5:c.1646dup ENSP00000387137.1:p.Thr550HisfsTer?
ENST00000410020.7:c.1649dup ENSP00000386881.3:p.Thr551HisfsTer?
ENST00000410041.1:c.1649dup ENSP00000386617.1:p.Thr551HisfsTer?
ENST00000413539.6:c.1688dup ENSP00000407046.2:p.Thr564HisfsTer?
ENST00000429174.6:c.1595dup ENSP00000398305.2:p.Thr533HisfsTer?
NM_001130455.1:c.1598dup NP_001123927.1:p.Thr534HisfsTer?
NM_001130976.1:c.1553dup NP_001124448.1:p.Thr519HisfsTer?
NM_001130977.1:c.1553dup NP_001124449.1:p.Thr519HisfsTer?
NM_001130978.1:c.1595dup NP_001124450.1:p.Thr533HisfsTer?
NM_001130979.1:c.1688dup NP_001124451.1:p.Thr564HisfsTer?
NM_001130980.1:c.1646dup NP_001124452.1:p.Thr550HisfsTer?
NM_001130981.1:c.1646dup NP_001124453.1:p.Thr550HisfsTer?
NM_001130982.1:c.1691dup NP_001124454.1:p.Thr565HisfsTer?
NM_001130983.1:c.1598dup NP_001124455.1:p.Thr534HisfsTer?
NM_001130984.1:c.1556dup NP_001124456.1:p.Thr520HisfsTer?
NM_001130985.1:c.1649dup NP_001124457.1:p.Thr551HisfsTer?
NM_001130986.1:c.1556dup NP_001124458.1:p.Thr520HisfsTer?
NM_001130987.1:c.1649dup NP_001124459.1:p.Thr551HisfsTer?
NM_003494.3:c.1595dup NP_003485.1:p.Thr533HisfsTer?
XM_005264584.3:c.1691dup XP_005264641.1:p.Thr565HisfsTer?
XM_005264585.3:c.1688dup XP_005264642.1:p.Thr564HisfsTer?
XM_005264584.4:c.1691dup XP_005264641.1:p.Thr565HisfsTer?
XM_005264585.5:c.1688dup XP_005264642.1:p.Thr564HisfsTer?
XR_001738969.1:n.1849dup
NM_001130987.2:c.1649dup MANE Select NP_001124459.1:p.Thr551HisfsTer?
NM_001130455.2:c.1598dup NP_001123927.1:p.Thr534HisfsTer?
NM_001130976.2:c.1553dup NP_001124448.1:p.Thr519HisfsTer?
NM_001130977.2:c.1553dup NP_001124449.1:p.Thr519HisfsTer?
NM_001130978.2:c.1595dup NP_001124450.1:p.Thr533HisfsTer?
NM_001130979.2:c.1688dup NP_001124451.1:p.Thr564HisfsTer?
NM_001130980.2:c.1646dup NP_001124452.1:p.Thr550HisfsTer?
NM_001130981.2:c.1646dup NP_001124453.1:p.Thr550HisfsTer?
NM_001130982.2:c.1691dup NP_001124454.1:p.Thr565HisfsTer?
NM_001130983.2:c.1598dup NP_001124455.1:p.Thr534HisfsTer?
NM_001130984.2:c.1556dup NP_001124456.1:p.Thr520HisfsTer?
NM_001130985.2:c.1649dup NP_001124457.1:p.Thr551HisfsTer?
NM_001130986.2:c.1556dup NP_001124458.1:p.Thr520HisfsTer?
NM_003494.4:c.1595dup MANE Plus Clinical NP_003485.1:p.Thr533HisfsTer?