Canonical Allele Identifier: CA2573135996

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1452503
• ClinVar RCV Id: RCV001999841
• dbSNP Id: rs2152924667

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71643991del , CM000664.2:g.71643991del	GRCh38
NC_000002.11:g.71871121del , CM000664.1:g.71871121del	GRCh37
NC_000002.10:g.71724629del	NCBI36
NG_008694.1:g.195369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1968del	ENSP00000513536.1:p.Ser656ArgfsTer7
ENST00000698058.1:c.1185del	ENSP00000513537.1:p.Ser395ArgfsTer7
ENST00000698059.1:c.1293del	ENSP00000513538.1:p.Ser431ArgfsTer7
ENST00000258104.8:c.4437del MANE Plus Clinical	ENSP00000258104.3:p.Ser1479ArgfsTer7
ENST00000410020.8:c.4554del MANE Select	ENSP00000386881.3:p.Ser1518ArgfsTer7
ENST00000258104.7:c.4437del	ENSP00000258104.3:p.Ser1479ArgfsTer7
ENST00000394120.6:c.4440del	ENSP00000377678.2:p.Ser1480ArgfsTer7
ENST00000409366.5:c.4503del	ENSP00000386512.1:p.Ser1501ArgfsTer7
ENST00000409582.7:c.4551del	ENSP00000386547.3:p.Ser1517ArgfsTer7
ENST00000409651.5:c.4533del	ENSP00000386683.1:p.Ser1511ArgfsTer7
ENST00000409744.5:c.4461del	ENSP00000386285.1:p.Ser1487ArgfsTer7
ENST00000409762.5:c.4488del	ENSP00000387137.1:p.Ser1496ArgfsTer7
ENST00000410020.7:c.4554del	ENSP00000386881.3:p.Ser1518ArgfsTer7
ENST00000410041.1:c.4491del	ENSP00000386617.1:p.Ser1497ArgfsTer7
ENST00000413539.6:c.4530del	ENSP00000407046.2:p.Ser1510ArgfsTer7
ENST00000429174.6:c.4500del	ENSP00000398305.2:p.Ser1500ArgfsTer7
ENST00000468173.1:n.736del
ENST00000479049.6:n.1322del
NM_001130455.1:c.4440del	NP_001123927.1:p.Ser1480ArgfsTer7
NM_001130976.1:c.4395del	NP_001124448.1:p.Ser1465ArgfsTer7
NM_001130977.1:c.4458del	NP_001124449.1:p.Ser1486ArgfsTer7
NM_001130978.1:c.4500del	NP_001124450.1:p.Ser1500ArgfsTer7
NM_001130979.1:c.4530del	NP_001124451.1:p.Ser1510ArgfsTer7
NM_001130980.1:c.4488del	NP_001124452.1:p.Ser1496ArgfsTer7
NM_001130981.1:c.4551del	NP_001124453.1:p.Ser1517ArgfsTer7
NM_001130982.1:c.4533del	NP_001124454.1:p.Ser1511ArgfsTer7
NM_001130983.1:c.4503del	NP_001124455.1:p.Ser1501ArgfsTer7
NM_001130984.1:c.4461del	NP_001124456.1:p.Ser1487ArgfsTer7
NM_001130985.1:c.4491del	NP_001124457.1:p.Ser1497ArgfsTer7
NM_001130986.1:c.4398del	NP_001124458.1:p.Ser1466ArgfsTer7
NM_001130987.1:c.4554del	NP_001124459.1:p.Ser1518ArgfsTer7
NM_003494.3:c.4437del	NP_003485.1:p.Ser1479ArgfsTer7
XM_005264584.3:c.4596del	XP_005264641.1:p.Ser1532ArgfsTer7
XM_005264585.3:c.4593del	XP_005264642.1:p.Ser1531ArgfsTer7
XM_005264584.4:c.4596del	XP_005264641.1:p.Ser1532ArgfsTer7
XM_005264585.5:c.4593del	XP_005264642.1:p.Ser1531ArgfsTer7
XR_001738969.1:n.4754del
NM_001130987.2:c.4554del MANE Select	NP_001124459.1:p.Ser1518ArgfsTer7
NM_001130455.2:c.4440del	NP_001123927.1:p.Ser1480ArgfsTer7
NM_001130976.2:c.4395del	NP_001124448.1:p.Ser1465ArgfsTer7
NM_001130977.2:c.4458del	NP_001124449.1:p.Ser1486ArgfsTer7
NM_001130978.2:c.4500del	NP_001124450.1:p.Ser1500ArgfsTer7
NM_001130979.2:c.4530del	NP_001124451.1:p.Ser1510ArgfsTer7
NM_001130980.2:c.4488del	NP_001124452.1:p.Ser1496ArgfsTer7
NM_001130981.2:c.4551del	NP_001124453.1:p.Ser1517ArgfsTer7
NM_001130982.2:c.4533del	NP_001124454.1:p.Ser1511ArgfsTer7
NM_001130983.2:c.4503del	NP_001124455.1:p.Ser1501ArgfsTer7
NM_001130984.2:c.4461del	NP_001124456.1:p.Ser1487ArgfsTer7
NM_001130985.2:c.4491del	NP_001124457.1:p.Ser1497ArgfsTer7
NM_001130986.2:c.4398del	NP_001124458.1:p.Ser1466ArgfsTer7
NM_003494.4:c.4437del MANE Plus Clinical	NP_003485.1:p.Ser1479ArgfsTer7