Canonical Allele Identifier: CA1139532926

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679209_71679210insCCCTGTGTGGCACTGTGTAGGAG , CM000664.2:g.71679209_71679210insCCCTGTGTGGCACTGTGTAGGAG	GRCh38
NC_000002.11:g.71906339_71906340insCCCTGTGTGGCACTGTGTAGGAG , CM000664.1:g.71906339_71906340insCCCTGTGTGGCACTGTGTAGGAG	GRCh37
NC_000002.10:g.71759847_71759848insCCCTGTGTGGCACTGTGTAGGAG	NCBI36
NG_008694.1:g.230587_230588insCCCTGTGTGGCACTGTGTAGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3451_3452insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000513536.1:p.Glu1151AlafsTer7
ENST00000698058.1:c.2668_2669insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000513537.1:p.Glu890AlafsTer7
ENST00000698059.1:c.2776_2777insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000513538.1:p.Glu926AlafsTer7
ENST00000258104.8:c.5920_5921insCCCTGTGTGGCACTGTGTAGGAG MANE Plus Clinical	ENSP00000258104.3:p.Glu1974AlafsTer7
ENST00000410020.8:c.6037_6038insCCCTGTGTGGCACTGTGTAGGAG MANE Select	ENSP00000386881.3:p.Glu2013AlafsTer7
ENST00000258104.7:c.5920_5921insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000258104.3:p.Glu1974AlafsTer7
ENST00000394120.6:c.5923_5924insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000377678.2:p.Glu1975AlafsTer7
ENST00000409366.5:c.5986_5987insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000386512.1:p.Glu1996AlafsTer7
ENST00000409582.7:c.6034_6035insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000386547.3:p.Glu2012AlafsTer7
ENST00000409651.5:c.6016_6017insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000386683.1:p.Glu2006AlafsTer7
ENST00000409744.5:c.5944_5945insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000386285.1:p.Glu1982AlafsTer7
ENST00000409762.5:c.5971_5972insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000387137.1:p.Glu1991AlafsTer7
ENST00000410020.7:c.6037_6038insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000386881.3:p.Glu2013AlafsTer7
ENST00000410041.1:c.5974_5975insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000386617.1:p.Glu1992AlafsTer7
ENST00000413539.6:c.6013_6014insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000407046.2:p.Glu2005AlafsTer7
ENST00000429174.6:c.5983_5984insCCCTGTGTGGCACTGTGTAGGAG	ENSP00000398305.2:p.Glu1995AlafsTer7
ENST00000479049.6:n.2805_2806insCCCTGTGTGGCACTGTGTAGGAG
NM_001130455.1:c.5923_5924insCCCTGTGTGGCACTGTGTAGGAG	NP_001123927.1:p.Glu1975AlafsTer7
NM_001130976.1:c.5878_5879insCCCTGTGTGGCACTGTGTAGGAG	NP_001124448.1:p.Glu1960AlafsTer7
NM_001130977.1:c.5941_5942insCCCTGTGTGGCACTGTGTAGGAG	NP_001124449.1:p.Glu1981AlafsTer7
NM_001130978.1:c.5983_5984insCCCTGTGTGGCACTGTGTAGGAG	NP_001124450.1:p.Glu1995AlafsTer7
NM_001130979.1:c.6013_6014insCCCTGTGTGGCACTGTGTAGGAG	NP_001124451.1:p.Glu2005AlafsTer7
NM_001130980.1:c.5971_5972insCCCTGTGTGGCACTGTGTAGGAG	NP_001124452.1:p.Glu1991AlafsTer7
NM_001130981.1:c.6034_6035insCCCTGTGTGGCACTGTGTAGGAG	NP_001124453.1:p.Glu2012AlafsTer7
NM_001130982.1:c.6016_6017insCCCTGTGTGGCACTGTGTAGGAG	NP_001124454.1:p.Glu2006AlafsTer7
NM_001130983.1:c.5986_5987insCCCTGTGTGGCACTGTGTAGGAG	NP_001124455.1:p.Glu1996AlafsTer7
NM_001130984.1:c.5944_5945insCCCTGTGTGGCACTGTGTAGGAG	NP_001124456.1:p.Glu1982AlafsTer7
NM_001130985.1:c.5974_5975insCCCTGTGTGGCACTGTGTAGGAG	NP_001124457.1:p.Glu1992AlafsTer7
NM_001130986.1:c.5881_5882insCCCTGTGTGGCACTGTGTAGGAG	NP_001124458.1:p.Glu1961AlafsTer7
NM_001130987.1:c.6037_6038insCCCTGTGTGGCACTGTGTAGGAG	NP_001124459.1:p.Glu2013AlafsTer7
NM_003494.3:c.5920_5921insCCCTGTGTGGCACTGTGTAGGAG	NP_003485.1:p.Glu1974AlafsTer7
XM_005264584.3:c.6079_6080insCCCTGTGTGGCACTGTGTAGGAG	XP_005264641.1:p.Glu2027AlafsTer7
XM_005264585.3:c.6076_6077insCCCTGTGTGGCACTGTGTAGGAG	XP_005264642.1:p.Glu2026AlafsTer7
XM_005264584.4:c.6079_6080insCCCTGTGTGGCACTGTGTAGGAG	XP_005264641.1:p.Glu2027AlafsTer7
XM_005264585.5:c.6076_6077insCCCTGTGTGGCACTGTGTAGGAG	XP_005264642.1:p.Glu2026AlafsTer7
NM_001130987.2:c.6037_6038insCCCTGTGTGGCACTGTGTAGGAG MANE Select	NP_001124459.1:p.Glu2013AlafsTer7
NM_001130455.2:c.5923_5924insCCCTGTGTGGCACTGTGTAGGAG	NP_001123927.1:p.Glu1975AlafsTer7
NM_001130976.2:c.5878_5879insCCCTGTGTGGCACTGTGTAGGAG	NP_001124448.1:p.Glu1960AlafsTer7
NM_001130977.2:c.5941_5942insCCCTGTGTGGCACTGTGTAGGAG	NP_001124449.1:p.Glu1981AlafsTer7
NM_001130978.2:c.5983_5984insCCCTGTGTGGCACTGTGTAGGAG	NP_001124450.1:p.Glu1995AlafsTer7
NM_001130979.2:c.6013_6014insCCCTGTGTGGCACTGTGTAGGAG	NP_001124451.1:p.Glu2005AlafsTer7
NM_001130980.2:c.5971_5972insCCCTGTGTGGCACTGTGTAGGAG	NP_001124452.1:p.Glu1991AlafsTer7
NM_001130981.2:c.6034_6035insCCCTGTGTGGCACTGTGTAGGAG	NP_001124453.1:p.Glu2012AlafsTer7
NM_001130982.2:c.6016_6017insCCCTGTGTGGCACTGTGTAGGAG	NP_001124454.1:p.Glu2006AlafsTer7
NM_001130983.2:c.5986_5987insCCCTGTGTGGCACTGTGTAGGAG	NP_001124455.1:p.Glu1996AlafsTer7
NM_001130984.2:c.5944_5945insCCCTGTGTGGCACTGTGTAGGAG	NP_001124456.1:p.Glu1982AlafsTer7
NM_001130985.2:c.5974_5975insCCCTGTGTGGCACTGTGTAGGAG	NP_001124457.1:p.Glu1992AlafsTer7
NM_001130986.2:c.5881_5882insCCCTGTGTGGCACTGTGTAGGAG	NP_001124458.1:p.Glu1961AlafsTer7
NM_003494.4:c.5920_5921insCCCTGTGTGGCACTGTGTAGGAG MANE Plus Clinical	NP_003485.1:p.Glu1974AlafsTer7