Canonical Allele Identifier: CA1260152116

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71668979_71668980delinsGC , CM000664.2:g.71668979_71668980delinsGC	GRCh38
NC_000002.11:g.71896109_71896110delinsGC , CM000664.1:g.71896109_71896110delinsGC	GRCh37
NC_000002.10:g.71749617_71749618delinsGC	NCBI36
NG_008694.1:g.220357_220358delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2961-133_2961-132delinsGC	ENSP00000513536.1:n.2961-133_2961-132delinsGC
ENST00000698058.1:c.2178-133_2178-132delinsGC	ENSP00000513537.1:n.2178-133_2178-132delinsGC
ENST00000698059.1:c.2286-133_2286-132delinsGC	ENSP00000513538.1:n.2286-133_2286-132delinsGC
ENST00000258104.8:c.5430-133_5430-132delinsGC MANE Plus Clinical	ENSP00000258104.3:n.5430-133_5430-132delinsGC
ENST00000410020.8:c.5547-133_5547-132delinsGC MANE Select	ENSP00000386881.3:n.5547-133_5547-132delinsGC
ENST00000258104.7:c.5430-133_5430-132delinsGC	ENSP00000258104.3:n.5430-133_5430-132delinsGC
ENST00000394120.6:c.5433-133_5433-132delinsGC	ENSP00000377678.2:n.5433-133_5433-132delinsGC
ENST00000409366.5:c.5496-133_5496-132delinsGC	ENSP00000386512.1:n.5496-133_5496-132delinsGC
ENST00000409582.7:c.5544-133_5544-132delinsGC	ENSP00000386547.3:n.5544-133_5544-132delinsGC
ENST00000409651.5:c.5526-133_5526-132delinsGC	ENSP00000386683.1:n.5526-133_5526-132delinsGC
ENST00000409744.5:c.5454-133_5454-132delinsGC	ENSP00000386285.1:n.5454-133_5454-132delinsGC
ENST00000409762.5:c.5481-133_5481-132delinsGC	ENSP00000387137.1:n.5481-133_5481-132delinsGC
ENST00000410020.7:c.5547-133_5547-132delinsGC	ENSP00000386881.3:n.5547-133_5547-132delinsGC
ENST00000410041.1:c.5484-133_5484-132delinsGC	ENSP00000386617.1:n.5484-133_5484-132delinsGC
ENST00000413539.6:c.5523-133_5523-132delinsGC	ENSP00000407046.2:n.5523-133_5523-132delinsGC
ENST00000429174.6:c.5493-133_5493-132delinsGC	ENSP00000398305.2:n.5493-133_5493-132delinsGC
ENST00000479049.6:n.2315-133_2315-132delinsGC
NM_001130455.1:c.5433-133_5433-132delinsGC	NP_001123927.1:n.5433-133_5433-132delinsGC
NM_001130976.1:c.5388-133_5388-132delinsGC	NP_001124448.1:n.5388-133_5388-132delinsGC
NM_001130977.1:c.5451-133_5451-132delinsGC	NP_001124449.1:n.5451-133_5451-132delinsGC
NM_001130978.1:c.5493-133_5493-132delinsGC	NP_001124450.1:n.5493-133_5493-132delinsGC
NM_001130979.1:c.5523-133_5523-132delinsGC	NP_001124451.1:n.5523-133_5523-132delinsGC
NM_001130980.1:c.5481-133_5481-132delinsGC	NP_001124452.1:n.5481-133_5481-132delinsGC
NM_001130981.1:c.5544-133_5544-132delinsGC	NP_001124453.1:n.5544-133_5544-132delinsGC
NM_001130982.1:c.5526-133_5526-132delinsGC	NP_001124454.1:n.5526-133_5526-132delinsGC
NM_001130983.1:c.5496-133_5496-132delinsGC	NP_001124455.1:n.5496-133_5496-132delinsGC
NM_001130984.1:c.5454-133_5454-132delinsGC	NP_001124456.1:n.5454-133_5454-132delinsGC
NM_001130985.1:c.5484-133_5484-132delinsGC	NP_001124457.1:n.5484-133_5484-132delinsGC
NM_001130986.1:c.5391-133_5391-132delinsGC	NP_001124458.1:n.5391-133_5391-132delinsGC
NM_001130987.1:c.5547-133_5547-132delinsGC	NP_001124459.1:n.5547-133_5547-132delinsGC
NM_003494.3:c.5430-133_5430-132delinsGC	NP_003485.1:n.5430-133_5430-132delinsGC
XM_005264584.3:c.5589-133_5589-132delinsGC	XP_005264641.1:n.5589-133_5589-132delinsGC
XM_005264585.3:c.5586-133_5586-132delinsGC	XP_005264642.1:n.5586-133_5586-132delinsGC
XM_005264584.4:c.5589-133_5589-132delinsGC	XP_005264641.1:n.5589-133_5589-132delinsGC
XM_005264585.5:c.5586-133_5586-132delinsGC	XP_005264642.1:n.5586-133_5586-132delinsGC
NM_001130987.2:c.5547-133_5547-132delinsGC MANE Select	NP_001124459.1:n.5547-133_5547-132delinsGC
NM_001130455.2:c.5433-133_5433-132delinsGC	NP_001123927.1:n.5433-133_5433-132delinsGC
NM_001130976.2:c.5388-133_5388-132delinsGC	NP_001124448.1:n.5388-133_5388-132delinsGC
NM_001130977.2:c.5451-133_5451-132delinsGC	NP_001124449.1:n.5451-133_5451-132delinsGC
NM_001130978.2:c.5493-133_5493-132delinsGC	NP_001124450.1:n.5493-133_5493-132delinsGC
NM_001130979.2:c.5523-133_5523-132delinsGC	NP_001124451.1:n.5523-133_5523-132delinsGC
NM_001130980.2:c.5481-133_5481-132delinsGC	NP_001124452.1:n.5481-133_5481-132delinsGC
NM_001130981.2:c.5544-133_5544-132delinsGC	NP_001124453.1:n.5544-133_5544-132delinsGC
NM_001130982.2:c.5526-133_5526-132delinsGC	NP_001124454.1:n.5526-133_5526-132delinsGC
NM_001130983.2:c.5496-133_5496-132delinsGC	NP_001124455.1:n.5496-133_5496-132delinsGC
NM_001130984.2:c.5454-133_5454-132delinsGC	NP_001124456.1:n.5454-133_5454-132delinsGC
NM_001130985.2:c.5484-133_5484-132delinsGC	NP_001124457.1:n.5484-133_5484-132delinsGC
NM_001130986.2:c.5391-133_5391-132delinsGC	NP_001124458.1:n.5391-133_5391-132delinsGC
NM_003494.4:c.5430-133_5430-132delinsGC MANE Plus Clinical	NP_003485.1:n.5430-133_5430-132delinsGC