Canonical Allele Identifier: CA2740095629

Gene: DYSF

Linked Data

• ClinVar Variation Id: 2970873
• ClinVar RCV Id: RCV003824575

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611547dup , CM000664.2:g.71611547dup	GRCh38
NC_000002.11:g.71838677dup , CM000664.1:g.71838677dup	GRCh37
NC_000002.10:g.71692185dup	NCBI36
NG_008694.1:g.162925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1556dup	ENSP00000513536.1:p.Gln520ProfsTer18
ENST00000698058.1:c.773dup	ENSP00000513537.1:p.Gln259ProfsTer18
ENST00000698059.1:c.731dup	ENSP00000513538.1:p.Gln245ProfsTer18
ENST00000258104.8:c.4088dup MANE Plus Clinical	ENSP00000258104.3:p.Gln1364ProfsTer18
ENST00000410020.8:c.4142dup MANE Select	ENSP00000386881.3:p.Gln1382ProfsTer18
ENST00000258104.7:c.4088dup	ENSP00000258104.3:p.Gln1364ProfsTer18
ENST00000394120.6:c.4091dup	ENSP00000377678.2:p.Gln1365ProfsTer18
ENST00000409366.5:c.4091dup	ENSP00000386512.1:p.Gln1365ProfsTer18
ENST00000409582.7:c.4139dup	ENSP00000386547.3:p.Gln1381ProfsTer18
ENST00000409651.5:c.4184dup	ENSP00000386683.1:p.Gln1396ProfsTer18
ENST00000409744.5:c.4049dup	ENSP00000386285.1:p.Gln1351ProfsTer18
ENST00000409762.5:c.4139dup	ENSP00000387137.1:p.Gln1381ProfsTer18
ENST00000410020.7:c.4142dup	ENSP00000386881.3:p.Gln1382ProfsTer18
ENST00000410041.1:c.4142dup	ENSP00000386617.1:p.Gln1382ProfsTer18
ENST00000413539.6:c.4181dup	ENSP00000407046.2:p.Gln1395ProfsTer18
ENST00000429174.6:c.4088dup	ENSP00000398305.2:p.Gln1364ProfsTer18
ENST00000468173.1:n.324dup
ENST00000472873.5:n.472dup
ENST00000479049.6:n.973dup
ENST00000487180.5:n.307dup
ENST00000494501.5:n.386dup
NM_001130455.1:c.4091dup	NP_001123927.1:p.Gln1365ProfsTer18
NM_001130976.1:c.4046dup	NP_001124448.1:p.Gln1350ProfsTer18
NM_001130977.1:c.4046dup	NP_001124449.1:p.Gln1350ProfsTer18
NM_001130978.1:c.4088dup	NP_001124450.1:p.Gln1364ProfsTer18
NM_001130979.1:c.4181dup	NP_001124451.1:p.Gln1395ProfsTer18
NM_001130980.1:c.4139dup	NP_001124452.1:p.Gln1381ProfsTer18
NM_001130981.1:c.4139dup	NP_001124453.1:p.Gln1381ProfsTer18
NM_001130982.1:c.4184dup	NP_001124454.1:p.Gln1396ProfsTer18
NM_001130983.1:c.4091dup	NP_001124455.1:p.Gln1365ProfsTer18
NM_001130984.1:c.4049dup	NP_001124456.1:p.Gln1351ProfsTer18
NM_001130985.1:c.4142dup	NP_001124457.1:p.Gln1382ProfsTer18
NM_001130986.1:c.4049dup	NP_001124458.1:p.Gln1351ProfsTer18
NM_001130987.1:c.4142dup	NP_001124459.1:p.Gln1382ProfsTer18
NM_003494.3:c.4088dup	NP_003485.1:p.Gln1364ProfsTer18
XM_005264584.3:c.4184dup	XP_005264641.1:p.Gln1396ProfsTer18
XM_005264585.3:c.4181dup	XP_005264642.1:p.Gln1395ProfsTer18
XM_005264584.4:c.4184dup	XP_005264641.1:p.Gln1396ProfsTer18
XM_005264585.5:c.4181dup	XP_005264642.1:p.Gln1395ProfsTer18
XR_001738969.1:n.4342dup
NM_001130987.2:c.4142dup MANE Select	NP_001124459.1:p.Gln1382ProfsTer18
NM_001130455.2:c.4091dup	NP_001123927.1:p.Gln1365ProfsTer18
NM_001130976.2:c.4046dup	NP_001124448.1:p.Gln1350ProfsTer18
NM_001130977.2:c.4046dup	NP_001124449.1:p.Gln1350ProfsTer18
NM_001130978.2:c.4088dup	NP_001124450.1:p.Gln1364ProfsTer18
NM_001130979.2:c.4181dup	NP_001124451.1:p.Gln1395ProfsTer18
NM_001130980.2:c.4139dup	NP_001124452.1:p.Gln1381ProfsTer18
NM_001130981.2:c.4139dup	NP_001124453.1:p.Gln1381ProfsTer18
NM_001130982.2:c.4184dup	NP_001124454.1:p.Gln1396ProfsTer18
NM_001130983.2:c.4091dup	NP_001124455.1:p.Gln1365ProfsTer18
NM_001130984.2:c.4049dup	NP_001124456.1:p.Gln1351ProfsTer18
NM_001130985.2:c.4142dup	NP_001124457.1:p.Gln1382ProfsTer18
NM_001130986.2:c.4049dup	NP_001124458.1:p.Gln1351ProfsTer18
NM_003494.4:c.4088dup MANE Plus Clinical	NP_003485.1:p.Gln1364ProfsTer18