Canonical Allele Identifier: CA2586969526

Gene: DYSF

Linked Data

• gnomAD v4: 2-71669174-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669179del , CM000664.2:g.71669179del	GRCh38
NC_000002.11:g.71896309del , CM000664.1:g.71896309del	GRCh37
NC_000002.10:g.71749817del	NCBI36
NG_008694.1:g.220557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3028del	ENSP00000513536.1:p.Glu1010ArgfsTer3
ENST00000698058.1:c.2245del	ENSP00000513537.1:p.Glu749ArgfsTer3
ENST00000698059.1:c.2353del	ENSP00000513538.1:p.Glu785ArgfsTer3
ENST00000258104.8:c.5497del MANE Plus Clinical	ENSP00000258104.3:p.Glu1833ArgfsTer3
ENST00000410020.8:c.5614del MANE Select	ENSP00000386881.3:p.Glu1872ArgfsTer3
ENST00000258104.7:c.5497del	ENSP00000258104.3:p.Glu1833ArgfsTer3
ENST00000394120.6:c.5500del	ENSP00000377678.2:p.Glu1834ArgfsTer3
ENST00000409366.5:c.5563del	ENSP00000386512.1:p.Glu1855ArgfsTer3
ENST00000409582.7:c.5611del	ENSP00000386547.3:p.Glu1871ArgfsTer3
ENST00000409651.5:c.5593del	ENSP00000386683.1:p.Glu1865ArgfsTer3
ENST00000409744.5:c.5521del	ENSP00000386285.1:p.Glu1841ArgfsTer3
ENST00000409762.5:c.5548del	ENSP00000387137.1:p.Glu1850ArgfsTer3
ENST00000410020.7:c.5614del	ENSP00000386881.3:p.Glu1872ArgfsTer3
ENST00000410041.1:c.5551del	ENSP00000386617.1:p.Glu1851ArgfsTer3
ENST00000413539.6:c.5590del	ENSP00000407046.2:p.Glu1864ArgfsTer3
ENST00000429174.6:c.5560del	ENSP00000398305.2:p.Glu1854ArgfsTer3
ENST00000479049.6:n.2382del
NM_001130455.1:c.5500del	NP_001123927.1:p.Glu1834ArgfsTer3
NM_001130976.1:c.5455del	NP_001124448.1:p.Glu1819ArgfsTer3
NM_001130977.1:c.5518del	NP_001124449.1:p.Glu1840ArgfsTer3
NM_001130978.1:c.5560del	NP_001124450.1:p.Glu1854ArgfsTer3
NM_001130979.1:c.5590del	NP_001124451.1:p.Glu1864ArgfsTer3
NM_001130980.1:c.5548del	NP_001124452.1:p.Glu1850ArgfsTer3
NM_001130981.1:c.5611del	NP_001124453.1:p.Glu1871ArgfsTer3
NM_001130982.1:c.5593del	NP_001124454.1:p.Glu1865ArgfsTer3
NM_001130983.1:c.5563del	NP_001124455.1:p.Glu1855ArgfsTer3
NM_001130984.1:c.5521del	NP_001124456.1:p.Glu1841ArgfsTer3
NM_001130985.1:c.5551del	NP_001124457.1:p.Glu1851ArgfsTer3
NM_001130986.1:c.5458del	NP_001124458.1:p.Glu1820ArgfsTer3
NM_001130987.1:c.5614del	NP_001124459.1:p.Glu1872ArgfsTer3
NM_003494.3:c.5497del	NP_003485.1:p.Glu1833ArgfsTer3
XM_005264584.3:c.5656del	XP_005264641.1:p.Glu1886ArgfsTer3
XM_005264585.3:c.5653del	XP_005264642.1:p.Glu1885ArgfsTer3
XM_005264584.4:c.5656del	XP_005264641.1:p.Glu1886ArgfsTer3
XM_005264585.5:c.5653del	XP_005264642.1:p.Glu1885ArgfsTer3
NM_001130987.2:c.5614del MANE Select	NP_001124459.1:p.Glu1872ArgfsTer3
NM_001130455.2:c.5500del	NP_001123927.1:p.Glu1834ArgfsTer3
NM_001130976.2:c.5455del	NP_001124448.1:p.Glu1819ArgfsTer3
NM_001130977.2:c.5518del	NP_001124449.1:p.Glu1840ArgfsTer3
NM_001130978.2:c.5560del	NP_001124450.1:p.Glu1854ArgfsTer3
NM_001130979.2:c.5590del	NP_001124451.1:p.Glu1864ArgfsTer3
NM_001130980.2:c.5548del	NP_001124452.1:p.Glu1850ArgfsTer3
NM_001130981.2:c.5611del	NP_001124453.1:p.Glu1871ArgfsTer3
NM_001130982.2:c.5593del	NP_001124454.1:p.Glu1865ArgfsTer3
NM_001130983.2:c.5563del	NP_001124455.1:p.Glu1855ArgfsTer3
NM_001130984.2:c.5521del	NP_001124456.1:p.Glu1841ArgfsTer3
NM_001130985.2:c.5551del	NP_001124457.1:p.Glu1851ArgfsTer3
NM_001130986.2:c.5458del	NP_001124458.1:p.Glu1820ArgfsTer3
NM_003494.4:c.5497del MANE Plus Clinical	NP_003485.1:p.Glu1833ArgfsTer3