Canonical Allele Identifier: CA2573135721

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1606804
• ClinVar RCV Id: RCV002139513
• dbSNP Id: rs2152874922

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611355del , CM000664.2:g.71611355del	GRCh38
NC_000002.11:g.71838485del , CM000664.1:g.71838485del	GRCh37
NC_000002.10:g.71691993del	NCBI36
NG_008694.1:g.162733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.1473+9del	ENSP00000513536.1:n.1473+9del
ENST00000698058.1:c.690+9del	ENSP00000513537.1:n.690+9del
ENST00000698059.1:c.648+9del	ENSP00000513538.1:n.648+9del
ENST00000258104.8:c.4005+9del MANE Plus Clinical	ENSP00000258104.3:n.4005+9del
ENST00000410020.8:c.4059+9del MANE Select	ENSP00000386881.3:n.4059+9del
ENST00000258104.7:c.4005+9del	ENSP00000258104.3:n.4005+9del
ENST00000394120.6:c.4008+9del	ENSP00000377678.2:n.4008+9del
ENST00000409366.5:c.4008+9del	ENSP00000386512.1:n.4008+9del
ENST00000409582.7:c.4056+9del	ENSP00000386547.3:n.4056+9del
ENST00000409651.5:c.4101+9del	ENSP00000386683.1:n.4101+9del
ENST00000409744.5:c.3966+9del	ENSP00000386285.1:n.3966+9del
ENST00000409762.5:c.4056+9del	ENSP00000387137.1:n.4056+9del
ENST00000410020.7:c.4059+9del	ENSP00000386881.3:n.4059+9del
ENST00000410041.1:c.4059+9del	ENSP00000386617.1:n.4059+9del
ENST00000413539.6:c.4098+9del	ENSP00000407046.2:n.4098+9del
ENST00000429174.6:c.4005+9del	ENSP00000398305.2:n.4005+9del
ENST00000468173.1:n.241+9del
ENST00000472873.5:n.389+9del
ENST00000479049.6:n.890+9del
ENST00000487180.5:n.224+9del
ENST00000494501.5:n.365+9del
NM_001130455.1:c.4008+9del	NP_001123927.1:n.4008+9del
NM_001130976.1:c.3963+9del	NP_001124448.1:n.3963+9del
NM_001130977.1:c.3963+9del	NP_001124449.1:n.3963+9del
NM_001130978.1:c.4005+9del	NP_001124450.1:n.4005+9del
NM_001130979.1:c.4098+9del	NP_001124451.1:n.4098+9del
NM_001130980.1:c.4056+9del	NP_001124452.1:n.4056+9del
NM_001130981.1:c.4056+9del	NP_001124453.1:n.4056+9del
NM_001130982.1:c.4101+9del	NP_001124454.1:n.4101+9del
NM_001130983.1:c.4008+9del	NP_001124455.1:n.4008+9del
NM_001130984.1:c.3966+9del	NP_001124456.1:n.3966+9del
NM_001130985.1:c.4059+9del	NP_001124457.1:n.4059+9del
NM_001130986.1:c.3966+9del	NP_001124458.1:n.3966+9del
NM_001130987.1:c.4059+9del	NP_001124459.1:n.4059+9del
NM_003494.3:c.4005+9del	NP_003485.1:n.4005+9del
XM_005264584.3:c.4101+9del	XP_005264641.1:n.4101+9del
XM_005264585.3:c.4098+9del	XP_005264642.1:n.4098+9del
XM_005264584.4:c.4101+9del	XP_005264641.1:n.4101+9del
XM_005264585.5:c.4098+9del	XP_005264642.1:n.4098+9del
XR_001738969.1:n.4259+9del
NM_001130987.2:c.4059+9del MANE Select	NP_001124459.1:n.4059+9del
NM_001130455.2:c.4008+9del	NP_001123927.1:n.4008+9del
NM_001130976.2:c.3963+9del	NP_001124448.1:n.3963+9del
NM_001130977.2:c.3963+9del	NP_001124449.1:n.3963+9del
NM_001130978.2:c.4005+9del	NP_001124450.1:n.4005+9del
NM_001130979.2:c.4098+9del	NP_001124451.1:n.4098+9del
NM_001130980.2:c.4056+9del	NP_001124452.1:n.4056+9del
NM_001130981.2:c.4056+9del	NP_001124453.1:n.4056+9del
NM_001130982.2:c.4101+9del	NP_001124454.1:n.4101+9del
NM_001130983.2:c.4008+9del	NP_001124455.1:n.4008+9del
NM_001130984.2:c.3966+9del	NP_001124456.1:n.3966+9del
NM_001130985.2:c.4059+9del	NP_001124457.1:n.4059+9del
NM_001130986.2:c.3966+9del	NP_001124458.1:n.3966+9del
NM_003494.4:c.4005+9del MANE Plus Clinical	NP_003485.1:n.4005+9del