Canonical Allele Identifier: CA2580067838

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1697322
• ClinVar RCV Id: RCV002267704
• dbSNP Id: rs2152956005

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669186del , CM000664.2:g.71669186del	GRCh38
NC_000002.11:g.71896316del , CM000664.1:g.71896316del	GRCh37
NC_000002.10:g.71749824del	NCBI36
NG_008694.1:g.220564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3035del	ENSP00000513536.1:p.Met1012ArgfsTer6
ENST00000698058.1:c.2252del	ENSP00000513537.1:p.Met751ArgfsTer6
ENST00000698059.1:c.2360del	ENSP00000513538.1:p.Met787ArgfsTer6
ENST00000258104.8:c.5504del MANE Plus Clinical	ENSP00000258104.3:p.Met1835ArgfsTer6
ENST00000410020.8:c.5621del MANE Select	ENSP00000386881.3:p.Met1874ArgfsTer6
ENST00000258104.7:c.5504del	ENSP00000258104.3:p.Met1835ArgfsTer6
ENST00000394120.6:c.5507del	ENSP00000377678.2:p.Met1836ArgfsTer6
ENST00000409366.5:c.5570del	ENSP00000386512.1:p.Met1857ArgfsTer6
ENST00000409582.7:c.5618del	ENSP00000386547.3:p.Met1873ArgfsTer6
ENST00000409651.5:c.5600del	ENSP00000386683.1:p.Met1867ArgfsTer6
ENST00000409744.5:c.5528del	ENSP00000386285.1:p.Met1843ArgfsTer6
ENST00000409762.5:c.5555del	ENSP00000387137.1:p.Met1852ArgfsTer6
ENST00000410020.7:c.5621del	ENSP00000386881.3:p.Met1874ArgfsTer6
ENST00000410041.1:c.5558del	ENSP00000386617.1:p.Met1853ArgfsTer6
ENST00000413539.6:c.5597del	ENSP00000407046.2:p.Met1866ArgfsTer6
ENST00000429174.6:c.5567del	ENSP00000398305.2:p.Met1856ArgfsTer6
ENST00000479049.6:n.2389del
NM_001130455.1:c.5507del	NP_001123927.1:p.Met1836ArgfsTer6
NM_001130976.1:c.5462del	NP_001124448.1:p.Met1821ArgfsTer6
NM_001130977.1:c.5525del	NP_001124449.1:p.Met1842ArgfsTer6
NM_001130978.1:c.5567del	NP_001124450.1:p.Met1856ArgfsTer6
NM_001130979.1:c.5597del	NP_001124451.1:p.Met1866ArgfsTer6
NM_001130980.1:c.5555del	NP_001124452.1:p.Met1852ArgfsTer6
NM_001130981.1:c.5618del	NP_001124453.1:p.Met1873ArgfsTer6
NM_001130982.1:c.5600del	NP_001124454.1:p.Met1867ArgfsTer6
NM_001130983.1:c.5570del	NP_001124455.1:p.Met1857ArgfsTer6
NM_001130984.1:c.5528del	NP_001124456.1:p.Met1843ArgfsTer6
NM_001130985.1:c.5558del	NP_001124457.1:p.Met1853ArgfsTer6
NM_001130986.1:c.5465del	NP_001124458.1:p.Met1822ArgfsTer6
NM_001130987.1:c.5621del	NP_001124459.1:p.Met1874ArgfsTer6
NM_003494.3:c.5504del	NP_003485.1:p.Met1835ArgfsTer6
XM_005264584.3:c.5663del	XP_005264641.1:p.Met1888ArgfsTer6
XM_005264585.3:c.5660del	XP_005264642.1:p.Met1887ArgfsTer6
XM_005264584.4:c.5663del	XP_005264641.1:p.Met1888ArgfsTer6
XM_005264585.5:c.5660del	XP_005264642.1:p.Met1887ArgfsTer6
NM_001130987.2:c.5621del MANE Select	NP_001124459.1:p.Met1874ArgfsTer6
NM_001130455.2:c.5507del	NP_001123927.1:p.Met1836ArgfsTer6
NM_001130976.2:c.5462del	NP_001124448.1:p.Met1821ArgfsTer6
NM_001130977.2:c.5525del	NP_001124449.1:p.Met1842ArgfsTer6
NM_001130978.2:c.5567del	NP_001124450.1:p.Met1856ArgfsTer6
NM_001130979.2:c.5597del	NP_001124451.1:p.Met1866ArgfsTer6
NM_001130980.2:c.5555del	NP_001124452.1:p.Met1852ArgfsTer6
NM_001130981.2:c.5618del	NP_001124453.1:p.Met1873ArgfsTer6
NM_001130982.2:c.5600del	NP_001124454.1:p.Met1867ArgfsTer6
NM_001130983.2:c.5570del	NP_001124455.1:p.Met1857ArgfsTer6
NM_001130984.2:c.5528del	NP_001124456.1:p.Met1843ArgfsTer6
NM_001130985.2:c.5558del	NP_001124457.1:p.Met1853ArgfsTer6
NM_001130986.2:c.5465del	NP_001124458.1:p.Met1822ArgfsTer6
NM_003494.4:c.5504del MANE Plus Clinical	NP_003485.1:p.Met1835ArgfsTer6