Canonical Allele Identifier: CA2577000793

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669033_71669034insTTTGGCTT , CM000664.2:g.71669033_71669034insTTTGGCTT	GRCh38
NC_000002.11:g.71896163_71896164insTTTGGCTT , CM000664.1:g.71896163_71896164insTTTGGCTT	GRCh37
NC_000002.10:g.71749671_71749672insTTTGGCTT	NCBI36
NG_008694.1:g.220411_220412insTTTGGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2961-79_2961-78insTTTGGCTT	ENSP00000513536.1:n.2961-79_2961-78insTTTGGCTT
ENST00000698058.1:c.2178-79_2178-78insTTTGGCTT	ENSP00000513537.1:n.2178-79_2178-78insTTTGGCTT
ENST00000698059.1:c.2286-79_2286-78insTTTGGCTT	ENSP00000513538.1:n.2286-79_2286-78insTTTGGCTT
ENST00000258104.8:c.5430-79_5430-78insTTTGGCTT MANE Plus Clinical	ENSP00000258104.3:n.5430-79_5430-78insTTTGGCTT
ENST00000410020.8:c.5547-79_5547-78insTTTGGCTT MANE Select	ENSP00000386881.3:n.5547-79_5547-78insTTTGGCTT
ENST00000258104.7:c.5430-79_5430-78insTTTGGCTT	ENSP00000258104.3:n.5430-79_5430-78insTTTGGCTT
ENST00000394120.6:c.5433-79_5433-78insTTTGGCTT	ENSP00000377678.2:n.5433-79_5433-78insTTTGGCTT
ENST00000409366.5:c.5496-79_5496-78insTTTGGCTT	ENSP00000386512.1:n.5496-79_5496-78insTTTGGCTT
ENST00000409582.7:c.5544-79_5544-78insTTTGGCTT	ENSP00000386547.3:n.5544-79_5544-78insTTTGGCTT
ENST00000409651.5:c.5526-79_5526-78insTTTGGCTT	ENSP00000386683.1:n.5526-79_5526-78insTTTGGCTT
ENST00000409744.5:c.5454-79_5454-78insTTTGGCTT	ENSP00000386285.1:n.5454-79_5454-78insTTTGGCTT
ENST00000409762.5:c.5481-79_5481-78insTTTGGCTT	ENSP00000387137.1:n.5481-79_5481-78insTTTGGCTT
ENST00000410020.7:c.5547-79_5547-78insTTTGGCTT	ENSP00000386881.3:n.5547-79_5547-78insTTTGGCTT
ENST00000410041.1:c.5484-79_5484-78insTTTGGCTT	ENSP00000386617.1:n.5484-79_5484-78insTTTGGCTT
ENST00000413539.6:c.5523-79_5523-78insTTTGGCTT	ENSP00000407046.2:n.5523-79_5523-78insTTTGGCTT
ENST00000429174.6:c.5493-79_5493-78insTTTGGCTT	ENSP00000398305.2:n.5493-79_5493-78insTTTGGCTT
ENST00000479049.6:n.2315-79_2315-78insTTTGGCTT
NM_001130455.1:c.5433-79_5433-78insTTTGGCTT	NP_001123927.1:n.5433-79_5433-78insTTTGGCTT
NM_001130976.1:c.5388-79_5388-78insTTTGGCTT	NP_001124448.1:n.5388-79_5388-78insTTTGGCTT
NM_001130977.1:c.5451-79_5451-78insTTTGGCTT	NP_001124449.1:n.5451-79_5451-78insTTTGGCTT
NM_001130978.1:c.5493-79_5493-78insTTTGGCTT	NP_001124450.1:n.5493-79_5493-78insTTTGGCTT
NM_001130979.1:c.5523-79_5523-78insTTTGGCTT	NP_001124451.1:n.5523-79_5523-78insTTTGGCTT
NM_001130980.1:c.5481-79_5481-78insTTTGGCTT	NP_001124452.1:n.5481-79_5481-78insTTTGGCTT
NM_001130981.1:c.5544-79_5544-78insTTTGGCTT	NP_001124453.1:n.5544-79_5544-78insTTTGGCTT
NM_001130982.1:c.5526-79_5526-78insTTTGGCTT	NP_001124454.1:n.5526-79_5526-78insTTTGGCTT
NM_001130983.1:c.5496-79_5496-78insTTTGGCTT	NP_001124455.1:n.5496-79_5496-78insTTTGGCTT
NM_001130984.1:c.5454-79_5454-78insTTTGGCTT	NP_001124456.1:n.5454-79_5454-78insTTTGGCTT
NM_001130985.1:c.5484-79_5484-78insTTTGGCTT	NP_001124457.1:n.5484-79_5484-78insTTTGGCTT
NM_001130986.1:c.5391-79_5391-78insTTTGGCTT	NP_001124458.1:n.5391-79_5391-78insTTTGGCTT
NM_001130987.1:c.5547-79_5547-78insTTTGGCTT	NP_001124459.1:n.5547-79_5547-78insTTTGGCTT
NM_003494.3:c.5430-79_5430-78insTTTGGCTT	NP_003485.1:n.5430-79_5430-78insTTTGGCTT
XM_005264584.3:c.5589-79_5589-78insTTTGGCTT	XP_005264641.1:n.5589-79_5589-78insTTTGGCTT
XM_005264585.3:c.5586-79_5586-78insTTTGGCTT	XP_005264642.1:n.5586-79_5586-78insTTTGGCTT
XM_005264584.4:c.5589-79_5589-78insTTTGGCTT	XP_005264641.1:n.5589-79_5589-78insTTTGGCTT
XM_005264585.5:c.5586-79_5586-78insTTTGGCTT	XP_005264642.1:n.5586-79_5586-78insTTTGGCTT
NM_001130987.2:c.5547-79_5547-78insTTTGGCTT MANE Select	NP_001124459.1:n.5547-79_5547-78insTTTGGCTT
NM_001130455.2:c.5433-79_5433-78insTTTGGCTT	NP_001123927.1:n.5433-79_5433-78insTTTGGCTT
NM_001130976.2:c.5388-79_5388-78insTTTGGCTT	NP_001124448.1:n.5388-79_5388-78insTTTGGCTT
NM_001130977.2:c.5451-79_5451-78insTTTGGCTT	NP_001124449.1:n.5451-79_5451-78insTTTGGCTT
NM_001130978.2:c.5493-79_5493-78insTTTGGCTT	NP_001124450.1:n.5493-79_5493-78insTTTGGCTT
NM_001130979.2:c.5523-79_5523-78insTTTGGCTT	NP_001124451.1:n.5523-79_5523-78insTTTGGCTT
NM_001130980.2:c.5481-79_5481-78insTTTGGCTT	NP_001124452.1:n.5481-79_5481-78insTTTGGCTT
NM_001130981.2:c.5544-79_5544-78insTTTGGCTT	NP_001124453.1:n.5544-79_5544-78insTTTGGCTT
NM_001130982.2:c.5526-79_5526-78insTTTGGCTT	NP_001124454.1:n.5526-79_5526-78insTTTGGCTT
NM_001130983.2:c.5496-79_5496-78insTTTGGCTT	NP_001124455.1:n.5496-79_5496-78insTTTGGCTT
NM_001130984.2:c.5454-79_5454-78insTTTGGCTT	NP_001124456.1:n.5454-79_5454-78insTTTGGCTT
NM_001130985.2:c.5484-79_5484-78insTTTGGCTT	NP_001124457.1:n.5484-79_5484-78insTTTGGCTT
NM_001130986.2:c.5391-79_5391-78insTTTGGCTT	NP_001124458.1:n.5391-79_5391-78insTTTGGCTT
NM_003494.4:c.5430-79_5430-78insTTTGGCTT MANE Plus Clinical	NP_003485.1:n.5430-79_5430-78insTTTGGCTT