Canonical Allele Identifier: CA2586969480

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71570682_71570685dup , CM000664.2:g.71570682_71570685dup	GRCh38
NC_000002.11:g.71797812_71797815dup , CM000664.1:g.71797812_71797815dup	GRCh37
NC_000002.10:g.71651320_71651323dup	NCBI36
NG_008694.1:g.122060_122063dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.541_544dup	ENSP00000513536.1:p.Arg182ProfsTer?
ENST00000258104.8:c.3115_3118dup MANE Plus Clinical	ENSP00000258104.3:p.Arg1040ProfsTer?
ENST00000410020.8:c.3169_3172dup MANE Select	ENSP00000386881.3:p.Arg1058ProfsTer?
ENST00000258104.7:c.3115_3118dup	ENSP00000258104.3:p.Arg1040ProfsTer?
ENST00000394120.6:c.3118_3121dup	ENSP00000377678.2:p.Arg1041ProfsTer?
ENST00000409366.5:c.3118_3121dup	ENSP00000386512.1:p.Arg1041ProfsTer?
ENST00000409582.7:c.3166_3169dup	ENSP00000386547.3:p.Arg1057ProfsTer?
ENST00000409651.5:c.3211_3214dup	ENSP00000386683.1:p.Arg1072ProfsTer?
ENST00000409744.5:c.3076_3079dup	ENSP00000386285.1:p.Arg1027ProfsTer?
ENST00000409762.5:c.3166_3169dup	ENSP00000387137.1:p.Arg1057ProfsTer?
ENST00000410020.7:c.3169_3172dup	ENSP00000386881.3:p.Arg1058ProfsTer?
ENST00000410041.1:c.3169_3172dup	ENSP00000386617.1:p.Arg1058ProfsTer?
ENST00000413539.6:c.3208_3211dup	ENSP00000407046.2:p.Arg1071ProfsTer?
ENST00000429174.6:c.3115_3118dup	ENSP00000398305.2:p.Arg1040ProfsTer?
ENST00000461565.1:n.281_284dup
NM_001130455.1:c.3118_3121dup	NP_001123927.1:p.Arg1041ProfsTer?
NM_001130976.1:c.3073_3076dup	NP_001124448.1:p.Arg1026ProfsTer?
NM_001130977.1:c.3073_3076dup	NP_001124449.1:p.Arg1026ProfsTer?
NM_001130978.1:c.3115_3118dup	NP_001124450.1:p.Arg1040ProfsTer?
NM_001130979.1:c.3208_3211dup	NP_001124451.1:p.Arg1071ProfsTer?
NM_001130980.1:c.3166_3169dup	NP_001124452.1:p.Arg1057ProfsTer?
NM_001130981.1:c.3166_3169dup	NP_001124453.1:p.Arg1057ProfsTer?
NM_001130982.1:c.3211_3214dup	NP_001124454.1:p.Arg1072ProfsTer?
NM_001130983.1:c.3118_3121dup	NP_001124455.1:p.Arg1041ProfsTer?
NM_001130984.1:c.3076_3079dup	NP_001124456.1:p.Arg1027ProfsTer?
NM_001130985.1:c.3169_3172dup	NP_001124457.1:p.Arg1058ProfsTer?
NM_001130986.1:c.3076_3079dup	NP_001124458.1:p.Arg1027ProfsTer?
NM_001130987.1:c.3169_3172dup	NP_001124459.1:p.Arg1058ProfsTer?
NM_003494.3:c.3115_3118dup	NP_003485.1:p.Arg1040ProfsTer?
XM_005264584.3:c.3211_3214dup	XP_005264641.1:p.Arg1072ProfsTer?
XM_005264585.3:c.3208_3211dup	XP_005264642.1:p.Arg1071ProfsTer?
XM_005264584.4:c.3211_3214dup	XP_005264641.1:p.Arg1072ProfsTer?
XM_005264585.5:c.3208_3211dup	XP_005264642.1:p.Arg1071ProfsTer?
XR_001738969.1:n.3369_3372dup
NM_001130987.2:c.3169_3172dup MANE Select	NP_001124459.1:p.Arg1058ProfsTer?
NM_001130455.2:c.3118_3121dup	NP_001123927.1:p.Arg1041ProfsTer?
NM_001130976.2:c.3073_3076dup	NP_001124448.1:p.Arg1026ProfsTer?
NM_001130977.2:c.3073_3076dup	NP_001124449.1:p.Arg1026ProfsTer?
NM_001130978.2:c.3115_3118dup	NP_001124450.1:p.Arg1040ProfsTer?
NM_001130979.2:c.3208_3211dup	NP_001124451.1:p.Arg1071ProfsTer?
NM_001130980.2:c.3166_3169dup	NP_001124452.1:p.Arg1057ProfsTer?
NM_001130981.2:c.3166_3169dup	NP_001124453.1:p.Arg1057ProfsTer?
NM_001130982.2:c.3211_3214dup	NP_001124454.1:p.Arg1072ProfsTer?
NM_001130983.2:c.3118_3121dup	NP_001124455.1:p.Arg1041ProfsTer?
NM_001130984.2:c.3076_3079dup	NP_001124456.1:p.Arg1027ProfsTer?
NM_001130985.2:c.3169_3172dup	NP_001124457.1:p.Arg1058ProfsTer?
NM_001130986.2:c.3076_3079dup	NP_001124458.1:p.Arg1027ProfsTer?
NM_003494.4:c.3115_3118dup MANE Plus Clinical	NP_003485.1:p.Arg1040ProfsTer?