Canonical Allele Identifier: CA2750413924

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71602780_71602781insTCACAGGAGACATCCTGTGCATCACA , CM000664.2:g.71602780_71602781insTCACAGGAGACATCCTGTGCATCACA	GRCh38
NC_000002.11:g.71829910_71829911insTCACAGGAGACATCCTGTGCATCACA , CM000664.1:g.71829910_71829911insTCACAGGAGACATCCTGTGCATCACA	GRCh37
NC_000002.10:g.71683418_71683419insTCACAGGAGACATCCTGTGCATCACA	NCBI36
NG_008694.1:g.154158_154159insTCACAGGAGACATCCTGTGCATCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1304_1305insTCACAGGAGACATCCTGTGCATCACA	ENSP00000513536.1:p.Gln435HisfsTer?
ENST00000698058.1:c.521_522insTCACAGGAGACATCCTGTGCATCACA	ENSP00000513537.1:p.Gln174HisfsTer?
ENST00000698059.1:c.521_522insTCACAGGAGACATCCTGTGCATCACA	ENSP00000513538.1:p.Gln174HisfsTer?
ENST00000258104.8:c.3878_3879insTCACAGGAGACATCCTGTGCATCACA MANE Plus Clinical	ENSP00000258104.3:p.Gln1293HisfsTer?
ENST00000410020.8:c.3932_3933insTCACAGGAGACATCCTGTGCATCACA MANE Select	ENSP00000386881.3:p.Gln1311HisfsTer?
ENST00000258104.7:c.3878_3879insTCACAGGAGACATCCTGTGCATCACA	ENSP00000258104.3:p.Gln1293HisfsTer?
ENST00000394120.6:c.3881_3882insTCACAGGAGACATCCTGTGCATCACA	ENSP00000377678.2:p.Gln1294HisfsTer?
ENST00000409366.5:c.3881_3882insTCACAGGAGACATCCTGTGCATCACA	ENSP00000386512.1:p.Gln1294HisfsTer?
ENST00000409582.7:c.3929_3930insTCACAGGAGACATCCTGTGCATCACA	ENSP00000386547.3:p.Gln1310HisfsTer?
ENST00000409651.5:c.3974_3975insTCACAGGAGACATCCTGTGCATCACA	ENSP00000386683.1:p.Gln1325HisfsTer?
ENST00000409744.5:c.3839_3840insTCACAGGAGACATCCTGTGCATCACA	ENSP00000386285.1:p.Gln1280HisfsTer?
ENST00000409762.5:c.3929_3930insTCACAGGAGACATCCTGTGCATCACA	ENSP00000387137.1:p.Gln1310HisfsTer?
ENST00000410020.7:c.3932_3933insTCACAGGAGACATCCTGTGCATCACA	ENSP00000386881.3:p.Gln1311HisfsTer?
ENST00000410041.1:c.3932_3933insTCACAGGAGACATCCTGTGCATCACA	ENSP00000386617.1:p.Gln1311HisfsTer?
ENST00000413539.6:c.3971_3972insTCACAGGAGACATCCTGTGCATCACA	ENSP00000407046.2:p.Gln1324HisfsTer?
ENST00000429174.6:c.3878_3879insTCACAGGAGACATCCTGTGCATCACA	ENSP00000398305.2:p.Gln1293HisfsTer?
ENST00000472873.5:n.262_263insTCACAGGAGACATCCTGTGCATCACA
ENST00000479049.6:n.763_764insTCACAGGAGACATCCTGTGCATCACA
ENST00000487180.5:n.97_98insTCACAGGAGACATCCTGTGCATCACA
ENST00000494501.5:n.238_239insTCACAGGAGACATCCTGTGCATCACA
NM_001130455.1:c.3881_3882insTCACAGGAGACATCCTGTGCATCACA	NP_001123927.1:p.Gln1294HisfsTer?
NM_001130976.1:c.3836_3837insTCACAGGAGACATCCTGTGCATCACA	NP_001124448.1:p.Gln1279HisfsTer?
NM_001130977.1:c.3836_3837insTCACAGGAGACATCCTGTGCATCACA	NP_001124449.1:p.Gln1279HisfsTer?
NM_001130978.1:c.3878_3879insTCACAGGAGACATCCTGTGCATCACA	NP_001124450.1:p.Gln1293HisfsTer?
NM_001130979.1:c.3971_3972insTCACAGGAGACATCCTGTGCATCACA	NP_001124451.1:p.Gln1324HisfsTer?
NM_001130980.1:c.3929_3930insTCACAGGAGACATCCTGTGCATCACA	NP_001124452.1:p.Gln1310HisfsTer?
NM_001130981.1:c.3929_3930insTCACAGGAGACATCCTGTGCATCACA	NP_001124453.1:p.Gln1310HisfsTer?
NM_001130982.1:c.3974_3975insTCACAGGAGACATCCTGTGCATCACA	NP_001124454.1:p.Gln1325HisfsTer?
NM_001130983.1:c.3881_3882insTCACAGGAGACATCCTGTGCATCACA	NP_001124455.1:p.Gln1294HisfsTer?
NM_001130984.1:c.3839_3840insTCACAGGAGACATCCTGTGCATCACA	NP_001124456.1:p.Gln1280HisfsTer?
NM_001130985.1:c.3932_3933insTCACAGGAGACATCCTGTGCATCACA	NP_001124457.1:p.Gln1311HisfsTer?
NM_001130986.1:c.3839_3840insTCACAGGAGACATCCTGTGCATCACA	NP_001124458.1:p.Gln1280HisfsTer?
NM_001130987.1:c.3932_3933insTCACAGGAGACATCCTGTGCATCACA	NP_001124459.1:p.Gln1311HisfsTer?
NM_003494.3:c.3878_3879insTCACAGGAGACATCCTGTGCATCACA	NP_003485.1:p.Gln1293HisfsTer?
XM_005264584.3:c.3974_3975insTCACAGGAGACATCCTGTGCATCACA	XP_005264641.1:p.Gln1325HisfsTer?
XM_005264585.3:c.3971_3972insTCACAGGAGACATCCTGTGCATCACA	XP_005264642.1:p.Gln1324HisfsTer?
XM_005264584.4:c.3974_3975insTCACAGGAGACATCCTGTGCATCACA	XP_005264641.1:p.Gln1325HisfsTer?
XM_005264585.5:c.3971_3972insTCACAGGAGACATCCTGTGCATCACA	XP_005264642.1:p.Gln1324HisfsTer?
XR_001738969.1:n.4132_4133insTCACAGGAGACATCCTGTGCATCACA
NM_001130987.2:c.3932_3933insTCACAGGAGACATCCTGTGCATCACA MANE Select	NP_001124459.1:p.Gln1311HisfsTer?
NM_001130455.2:c.3881_3882insTCACAGGAGACATCCTGTGCATCACA	NP_001123927.1:p.Gln1294HisfsTer?
NM_001130976.2:c.3836_3837insTCACAGGAGACATCCTGTGCATCACA	NP_001124448.1:p.Gln1279HisfsTer?
NM_001130977.2:c.3836_3837insTCACAGGAGACATCCTGTGCATCACA	NP_001124449.1:p.Gln1279HisfsTer?
NM_001130978.2:c.3878_3879insTCACAGGAGACATCCTGTGCATCACA	NP_001124450.1:p.Gln1293HisfsTer?
NM_001130979.2:c.3971_3972insTCACAGGAGACATCCTGTGCATCACA	NP_001124451.1:p.Gln1324HisfsTer?
NM_001130980.2:c.3929_3930insTCACAGGAGACATCCTGTGCATCACA	NP_001124452.1:p.Gln1310HisfsTer?
NM_001130981.2:c.3929_3930insTCACAGGAGACATCCTGTGCATCACA	NP_001124453.1:p.Gln1310HisfsTer?
NM_001130982.2:c.3974_3975insTCACAGGAGACATCCTGTGCATCACA	NP_001124454.1:p.Gln1325HisfsTer?
NM_001130983.2:c.3881_3882insTCACAGGAGACATCCTGTGCATCACA	NP_001124455.1:p.Gln1294HisfsTer?
NM_001130984.2:c.3839_3840insTCACAGGAGACATCCTGTGCATCACA	NP_001124456.1:p.Gln1280HisfsTer?
NM_001130985.2:c.3932_3933insTCACAGGAGACATCCTGTGCATCACA	NP_001124457.1:p.Gln1311HisfsTer?
NM_001130986.2:c.3839_3840insTCACAGGAGACATCCTGTGCATCACA	NP_001124458.1:p.Gln1280HisfsTer?
NM_003494.4:c.3878_3879insTCACAGGAGACATCCTGTGCATCACA MANE Plus Clinical	NP_003485.1:p.Gln1293HisfsTer?