Canonical Allele Identifier: CA2586969505

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71611467_71611469delinsAC , CM000664.2:g.71611467_71611469delinsAC	GRCh38
NC_000002.11:g.71838597_71838599delinsAC , CM000664.1:g.71838597_71838599delinsAC	GRCh37
NC_000002.10:g.71692105_71692107delinsAC	NCBI36
NG_008694.1:g.162845_162847delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1476_1478delinsAC	ENSP00000513536.1:p.Leu493ArgfsTer8
ENST00000698058.1:c.693_695delinsAC	ENSP00000513537.1:p.Leu232ArgfsTer8
ENST00000698059.1:c.651_653delinsAC	ENSP00000513538.1:p.Leu218ArgfsTer8
ENST00000258104.8:c.4008_4010delinsAC MANE Plus Clinical	ENSP00000258104.3:p.Leu1337ArgfsTer8
ENST00000410020.8:c.4062_4064delinsAC MANE Select	ENSP00000386881.3:p.Leu1355ArgfsTer8
ENST00000258104.7:c.4008_4010delinsAC	ENSP00000258104.3:p.Leu1337ArgfsTer8
ENST00000394120.6:c.4011_4013delinsAC	ENSP00000377678.2:p.Leu1338ArgfsTer8
ENST00000409366.5:c.4011_4013delinsAC	ENSP00000386512.1:p.Leu1338ArgfsTer8
ENST00000409582.7:c.4059_4061delinsAC	ENSP00000386547.3:p.Leu1354ArgfsTer8
ENST00000409651.5:c.4104_4106delinsAC	ENSP00000386683.1:p.Leu1369ArgfsTer8
ENST00000409744.5:c.3969_3971delinsAC	ENSP00000386285.1:p.Leu1324ArgfsTer8
ENST00000409762.5:c.4059_4061delinsAC	ENSP00000387137.1:p.Leu1354ArgfsTer8
ENST00000410020.7:c.4062_4064delinsAC	ENSP00000386881.3:p.Leu1355ArgfsTer8
ENST00000410041.1:c.4062_4064delinsAC	ENSP00000386617.1:p.Leu1355ArgfsTer8
ENST00000413539.6:c.4101_4103delinsAC	ENSP00000407046.2:p.Leu1368ArgfsTer8
ENST00000429174.6:c.4008_4010delinsAC	ENSP00000398305.2:p.Leu1337ArgfsTer8
ENST00000468173.1:n.244_246delinsAC
ENST00000472873.5:n.392_394delinsAC
ENST00000479049.6:n.893_895delinsAC
ENST00000487180.5:n.227_229delinsAC
ENST00000494501.5:n.366-60_366-58delinsAC
NM_001130455.1:c.4011_4013delinsAC	NP_001123927.1:p.Leu1338ArgfsTer8
NM_001130976.1:c.3966_3968delinsAC	NP_001124448.1:p.Leu1323ArgfsTer8
NM_001130977.1:c.3966_3968delinsAC	NP_001124449.1:p.Leu1323ArgfsTer8
NM_001130978.1:c.4008_4010delinsAC	NP_001124450.1:p.Leu1337ArgfsTer8
NM_001130979.1:c.4101_4103delinsAC	NP_001124451.1:p.Leu1368ArgfsTer8
NM_001130980.1:c.4059_4061delinsAC	NP_001124452.1:p.Leu1354ArgfsTer8
NM_001130981.1:c.4059_4061delinsAC	NP_001124453.1:p.Leu1354ArgfsTer8
NM_001130982.1:c.4104_4106delinsAC	NP_001124454.1:p.Leu1369ArgfsTer8
NM_001130983.1:c.4011_4013delinsAC	NP_001124455.1:p.Leu1338ArgfsTer8
NM_001130984.1:c.3969_3971delinsAC	NP_001124456.1:p.Leu1324ArgfsTer8
NM_001130985.1:c.4062_4064delinsAC	NP_001124457.1:p.Leu1355ArgfsTer8
NM_001130986.1:c.3969_3971delinsAC	NP_001124458.1:p.Leu1324ArgfsTer8
NM_001130987.1:c.4062_4064delinsAC	NP_001124459.1:p.Leu1355ArgfsTer8
NM_003494.3:c.4008_4010delinsAC	NP_003485.1:p.Leu1337ArgfsTer8
XM_005264584.3:c.4104_4106delinsAC	XP_005264641.1:p.Leu1369ArgfsTer8
XM_005264585.3:c.4101_4103delinsAC	XP_005264642.1:p.Leu1368ArgfsTer8
XM_005264584.4:c.4104_4106delinsAC	XP_005264641.1:p.Leu1369ArgfsTer8
XM_005264585.5:c.4101_4103delinsAC	XP_005264642.1:p.Leu1368ArgfsTer8
XR_001738969.1:n.4262_4264delinsAC
NM_001130987.2:c.4062_4064delinsAC MANE Select	NP_001124459.1:p.Leu1355ArgfsTer8
NM_001130455.2:c.4011_4013delinsAC	NP_001123927.1:p.Leu1338ArgfsTer8
NM_001130976.2:c.3966_3968delinsAC	NP_001124448.1:p.Leu1323ArgfsTer8
NM_001130977.2:c.3966_3968delinsAC	NP_001124449.1:p.Leu1323ArgfsTer8
NM_001130978.2:c.4008_4010delinsAC	NP_001124450.1:p.Leu1337ArgfsTer8
NM_001130979.2:c.4101_4103delinsAC	NP_001124451.1:p.Leu1368ArgfsTer8
NM_001130980.2:c.4059_4061delinsAC	NP_001124452.1:p.Leu1354ArgfsTer8
NM_001130981.2:c.4059_4061delinsAC	NP_001124453.1:p.Leu1354ArgfsTer8
NM_001130982.2:c.4104_4106delinsAC	NP_001124454.1:p.Leu1369ArgfsTer8
NM_001130983.2:c.4011_4013delinsAC	NP_001124455.1:p.Leu1338ArgfsTer8
NM_001130984.2:c.3969_3971delinsAC	NP_001124456.1:p.Leu1324ArgfsTer8
NM_001130985.2:c.4062_4064delinsAC	NP_001124457.1:p.Leu1355ArgfsTer8
NM_001130986.2:c.3969_3971delinsAC	NP_001124458.1:p.Leu1324ArgfsTer8
NM_003494.4:c.4008_4010delinsAC MANE Plus Clinical	NP_003485.1:p.Leu1337ArgfsTer8