Canonical Allele Identifier: CA2586969531

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669208del , CM000664.2:g.71669208del	GRCh38
NC_000002.11:g.71896338del , CM000664.1:g.71896338del	GRCh37
NC_000002.10:g.71749846del	NCBI36
NG_008694.1:g.220586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3056+1del
ENST00000698058.1:c.2273+1del
ENST00000698059.1:c.2381+1del
ENST00000258104.8:c.5525+1del
ENST00000410020.8:c.5642+1del
ENST00000258104.7:c.5525+1del
ENST00000394120.6:c.5528+1del
ENST00000409366.5:c.5591+1del
ENST00000409582.7:c.5639+1del
ENST00000409651.5:c.5621+1del
ENST00000409744.5:c.5549+1del
ENST00000409762.5:c.5576+1del
ENST00000410020.7:c.5642+1del
ENST00000410041.1:c.5579+1del
ENST00000413539.6:c.5618+1del
ENST00000429174.6:c.5588+1del
ENST00000479049.6:n.2410+1del
NM_001130455.1:c.5528+1del
NM_001130976.1:c.5483+1del
NM_001130977.1:c.5546+1del
NM_001130978.1:c.5588+1del
NM_001130979.1:c.5618+1del
NM_001130980.1:c.5576+1del
NM_001130981.1:c.5639+1del
NM_001130982.1:c.5621+1del
NM_001130983.1:c.5591+1del
NM_001130984.1:c.5549+1del
NM_001130985.1:c.5579+1del
NM_001130986.1:c.5486+1del
NM_001130987.1:c.5642+1del
NM_003494.3:c.5525+1del
XM_005264584.3:c.5684+1del
XM_005264585.3:c.5681+1del
XM_005264584.4:c.5684+1del
XM_005264585.5:c.5681+1del
NM_001130987.2:c.5642+1del
NM_001130455.2:c.5528+1del
NM_001130976.2:c.5483+1del
NM_001130977.2:c.5546+1del
NM_001130978.2:c.5588+1del
NM_001130979.2:c.5618+1del
NM_001130980.2:c.5576+1del
NM_001130981.2:c.5639+1del
NM_001130982.2:c.5621+1del
NM_001130983.2:c.5591+1del
NM_001130984.2:c.5549+1del
NM_001130985.2:c.5579+1del
NM_001130986.2:c.5486+1del
NM_003494.4:c.5525+1del