Canonical Allele Identifier: CA1260152491

Gene: DYSF

Linked Data

• dbSNP Id: rs2095085457

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669728_71669729del , CM000664.2:g.71669728_71669729del	GRCh38
NC_000002.11:g.71896858_71896859del , CM000664.1:g.71896858_71896859del	GRCh37
NC_000002.10:g.71750366_71750367del	NCBI36
NG_008694.1:g.221106_221107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3180_3181del	ENSP00000513536.1:p.Cys1061TyrfsTer15
ENST00000698058.1:c.2397_2398del	ENSP00000513537.1:p.Cys800TyrfsTer15
ENST00000698059.1:c.2505_2506del	ENSP00000513538.1:p.Cys836TyrfsTer15
ENST00000258104.8:c.5649_5650del MANE Plus Clinical	ENSP00000258104.3:p.Cys1884TyrfsTer15
ENST00000410020.8:c.5766_5767del MANE Select	ENSP00000386881.3:p.Cys1923TyrfsTer15
ENST00000258104.7:c.5649_5650del	ENSP00000258104.3:p.Cys1884TyrfsTer15
ENST00000394120.6:c.5652_5653del	ENSP00000377678.2:p.Cys1885TyrfsTer15
ENST00000409366.5:c.5715_5716del	ENSP00000386512.1:p.Cys1906TyrfsTer15
ENST00000409582.7:c.5763_5764del	ENSP00000386547.3:p.Cys1922TyrfsTer15
ENST00000409651.5:c.5745_5746del	ENSP00000386683.1:p.Cys1916TyrfsTer15
ENST00000409744.5:c.5673_5674del	ENSP00000386285.1:p.Cys1892TyrfsTer15
ENST00000409762.5:c.5700_5701del	ENSP00000387137.1:p.Cys1901TyrfsTer15
ENST00000410020.7:c.5766_5767del	ENSP00000386881.3:p.Cys1923TyrfsTer15
ENST00000410041.1:c.5703_5704del	ENSP00000386617.1:p.Cys1902TyrfsTer15
ENST00000413539.6:c.5742_5743del	ENSP00000407046.2:p.Cys1915TyrfsTer15
ENST00000429174.6:c.5712_5713del	ENSP00000398305.2:p.Cys1905TyrfsTer15
ENST00000479049.6:n.2534_2535del
NM_001130455.1:c.5652_5653del	NP_001123927.1:p.Cys1885TyrfsTer15
NM_001130976.1:c.5607_5608del	NP_001124448.1:p.Cys1870TyrfsTer15
NM_001130977.1:c.5670_5671del	NP_001124449.1:p.Cys1891TyrfsTer15
NM_001130978.1:c.5712_5713del	NP_001124450.1:p.Cys1905TyrfsTer15
NM_001130979.1:c.5742_5743del	NP_001124451.1:p.Cys1915TyrfsTer15
NM_001130980.1:c.5700_5701del	NP_001124452.1:p.Cys1901TyrfsTer15
NM_001130981.1:c.5763_5764del	NP_001124453.1:p.Cys1922TyrfsTer15
NM_001130982.1:c.5745_5746del	NP_001124454.1:p.Cys1916TyrfsTer15
NM_001130983.1:c.5715_5716del	NP_001124455.1:p.Cys1906TyrfsTer15
NM_001130984.1:c.5673_5674del	NP_001124456.1:p.Cys1892TyrfsTer15
NM_001130985.1:c.5703_5704del	NP_001124457.1:p.Cys1902TyrfsTer15
NM_001130986.1:c.5610_5611del	NP_001124458.1:p.Cys1871TyrfsTer15
NM_001130987.1:c.5766_5767del	NP_001124459.1:p.Cys1923TyrfsTer15
NM_003494.3:c.5649_5650del	NP_003485.1:p.Cys1884TyrfsTer15
XM_005264584.3:c.5808_5809del	XP_005264641.1:p.Cys1937TyrfsTer15
XM_005264585.3:c.5805_5806del	XP_005264642.1:p.Cys1936TyrfsTer15
XM_005264584.4:c.5808_5809del	XP_005264641.1:p.Cys1937TyrfsTer15
XM_005264585.5:c.5805_5806del	XP_005264642.1:p.Cys1936TyrfsTer15
NM_001130987.2:c.5766_5767del MANE Select	NP_001124459.1:p.Cys1923TyrfsTer15
NM_001130455.2:c.5652_5653del	NP_001123927.1:p.Cys1885TyrfsTer15
NM_001130976.2:c.5607_5608del	NP_001124448.1:p.Cys1870TyrfsTer15
NM_001130977.2:c.5670_5671del	NP_001124449.1:p.Cys1891TyrfsTer15
NM_001130978.2:c.5712_5713del	NP_001124450.1:p.Cys1905TyrfsTer15
NM_001130979.2:c.5742_5743del	NP_001124451.1:p.Cys1915TyrfsTer15
NM_001130980.2:c.5700_5701del	NP_001124452.1:p.Cys1901TyrfsTer15
NM_001130981.2:c.5763_5764del	NP_001124453.1:p.Cys1922TyrfsTer15
NM_001130982.2:c.5745_5746del	NP_001124454.1:p.Cys1916TyrfsTer15
NM_001130983.2:c.5715_5716del	NP_001124455.1:p.Cys1906TyrfsTer15
NM_001130984.2:c.5673_5674del	NP_001124456.1:p.Cys1892TyrfsTer15
NM_001130985.2:c.5703_5704del	NP_001124457.1:p.Cys1902TyrfsTer15
NM_001130986.2:c.5610_5611del	NP_001124458.1:p.Cys1871TyrfsTer15
NM_003494.4:c.5649_5650del MANE Plus Clinical	NP_003485.1:p.Cys1884TyrfsTer15