Canonical Allele Identifier: CA2586969506

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611471del , CM000664.2:g.71611471del	GRCh38
NC_000002.11:g.71838601del , CM000664.1:g.71838601del	GRCh37
NC_000002.10:g.71692109del	NCBI36
NG_008694.1:g.162849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1480del	ENSP00000513536.1:p.Ala494HisfsTer7
ENST00000698058.1:c.697del	ENSP00000513537.1:p.Ala233HisfsTer7
ENST00000698059.1:c.655del	ENSP00000513538.1:p.Ala219HisfsTer7
ENST00000258104.8:c.4012del MANE Plus Clinical	ENSP00000258104.3:p.Ala1338HisfsTer7
ENST00000410020.8:c.4066del MANE Select	ENSP00000386881.3:p.Ala1356HisfsTer7
ENST00000258104.7:c.4012del	ENSP00000258104.3:p.Ala1338HisfsTer7
ENST00000394120.6:c.4015del	ENSP00000377678.2:p.Ala1339HisfsTer7
ENST00000409366.5:c.4015del	ENSP00000386512.1:p.Ala1339HisfsTer7
ENST00000409582.7:c.4063del	ENSP00000386547.3:p.Ala1355HisfsTer7
ENST00000409651.5:c.4108del	ENSP00000386683.1:p.Ala1370HisfsTer7
ENST00000409744.5:c.3973del	ENSP00000386285.1:p.Ala1325HisfsTer7
ENST00000409762.5:c.4063del	ENSP00000387137.1:p.Ala1355HisfsTer7
ENST00000410020.7:c.4066del	ENSP00000386881.3:p.Ala1356HisfsTer7
ENST00000410041.1:c.4066del	ENSP00000386617.1:p.Ala1356HisfsTer7
ENST00000413539.6:c.4105del	ENSP00000407046.2:p.Ala1369HisfsTer7
ENST00000429174.6:c.4012del	ENSP00000398305.2:p.Ala1338HisfsTer7
ENST00000468173.1:n.248del
ENST00000472873.5:n.396del
ENST00000479049.6:n.897del
ENST00000487180.5:n.231del
ENST00000494501.5:n.366-56del
NM_001130455.1:c.4015del	NP_001123927.1:p.Ala1339HisfsTer7
NM_001130976.1:c.3970del	NP_001124448.1:p.Ala1324HisfsTer7
NM_001130977.1:c.3970del	NP_001124449.1:p.Ala1324HisfsTer7
NM_001130978.1:c.4012del	NP_001124450.1:p.Ala1338HisfsTer7
NM_001130979.1:c.4105del	NP_001124451.1:p.Ala1369HisfsTer7
NM_001130980.1:c.4063del	NP_001124452.1:p.Ala1355HisfsTer7
NM_001130981.1:c.4063del	NP_001124453.1:p.Ala1355HisfsTer7
NM_001130982.1:c.4108del	NP_001124454.1:p.Ala1370HisfsTer7
NM_001130983.1:c.4015del	NP_001124455.1:p.Ala1339HisfsTer7
NM_001130984.1:c.3973del	NP_001124456.1:p.Ala1325HisfsTer7
NM_001130985.1:c.4066del	NP_001124457.1:p.Ala1356HisfsTer7
NM_001130986.1:c.3973del	NP_001124458.1:p.Ala1325HisfsTer7
NM_001130987.1:c.4066del	NP_001124459.1:p.Ala1356HisfsTer7
NM_003494.3:c.4012del	NP_003485.1:p.Ala1338HisfsTer7
XM_005264584.3:c.4108del	XP_005264641.1:p.Ala1370HisfsTer7
XM_005264585.3:c.4105del	XP_005264642.1:p.Ala1369HisfsTer7
XM_005264584.4:c.4108del	XP_005264641.1:p.Ala1370HisfsTer7
XM_005264585.5:c.4105del	XP_005264642.1:p.Ala1369HisfsTer7
XR_001738969.1:n.4266del
NM_001130987.2:c.4066del MANE Select	NP_001124459.1:p.Ala1356HisfsTer7
NM_001130455.2:c.4015del	NP_001123927.1:p.Ala1339HisfsTer7
NM_001130976.2:c.3970del	NP_001124448.1:p.Ala1324HisfsTer7
NM_001130977.2:c.3970del	NP_001124449.1:p.Ala1324HisfsTer7
NM_001130978.2:c.4012del	NP_001124450.1:p.Ala1338HisfsTer7
NM_001130979.2:c.4105del	NP_001124451.1:p.Ala1369HisfsTer7
NM_001130980.2:c.4063del	NP_001124452.1:p.Ala1355HisfsTer7
NM_001130981.2:c.4063del	NP_001124453.1:p.Ala1355HisfsTer7
NM_001130982.2:c.4108del	NP_001124454.1:p.Ala1370HisfsTer7
NM_001130983.2:c.4015del	NP_001124455.1:p.Ala1339HisfsTer7
NM_001130984.2:c.3973del	NP_001124456.1:p.Ala1325HisfsTer7
NM_001130985.2:c.4066del	NP_001124457.1:p.Ala1356HisfsTer7
NM_001130986.2:c.3973del	NP_001124458.1:p.Ala1325HisfsTer7
NM_003494.4:c.4012del MANE Plus Clinical	NP_003485.1:p.Ala1338HisfsTer7