Canonical Allele Identifier: CA2659555471

Gene: DYSF

Linked Data

• gnomAD v4: 2-71669217-CAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669218_71669250del , CM000664.2:g.71669218_71669250del	GRCh38
NC_000002.11:g.71896348_71896380del , CM000664.1:g.71896348_71896380del	GRCh37
NC_000002.10:g.71749856_71749888del	NCBI36
NG_008694.1:g.220596_220628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3056+11_3056+43del	ENSP00000513536.1:n.3056+11_3056+43del
ENST00000698058.1:c.2273+11_2273+43del	ENSP00000513537.1:n.2273+11_2273+43del
ENST00000698059.1:c.2381+11_2381+43del	ENSP00000513538.1:n.2381+11_2381+43del
ENST00000258104.8:c.5525+11_5525+43del MANE Plus Clinical	ENSP00000258104.3:n.5525+11_5525+43del
ENST00000410020.8:c.5642+11_5642+43del MANE Select	ENSP00000386881.3:n.5642+11_5642+43del
ENST00000258104.7:c.5525+11_5525+43del	ENSP00000258104.3:n.5525+11_5525+43del
ENST00000394120.6:c.5528+11_5528+43del	ENSP00000377678.2:n.5528+11_5528+43del
ENST00000409366.5:c.5591+11_5591+43del	ENSP00000386512.1:n.5591+11_5591+43del
ENST00000409582.7:c.5639+11_5639+43del	ENSP00000386547.3:n.5639+11_5639+43del
ENST00000409651.5:c.5621+11_5621+43del	ENSP00000386683.1:n.5621+11_5621+43del
ENST00000409744.5:c.5549+11_5549+43del	ENSP00000386285.1:n.5549+11_5549+43del
ENST00000409762.5:c.5576+11_5576+43del	ENSP00000387137.1:n.5576+11_5576+43del
ENST00000410020.7:c.5642+11_5642+43del	ENSP00000386881.3:n.5642+11_5642+43del
ENST00000410041.1:c.5579+11_5579+43del	ENSP00000386617.1:n.5579+11_5579+43del
ENST00000413539.6:c.5618+11_5618+43del	ENSP00000407046.2:n.5618+11_5618+43del
ENST00000429174.6:c.5588+11_5588+43del	ENSP00000398305.2:n.5588+11_5588+43del
ENST00000479049.6:n.2410+11_2410+43del
NM_001130455.1:c.5528+11_5528+43del	NP_001123927.1:n.5528+11_5528+43del
NM_001130976.1:c.5483+11_5483+43del	NP_001124448.1:n.5483+11_5483+43del
NM_001130977.1:c.5546+11_5546+43del	NP_001124449.1:n.5546+11_5546+43del
NM_001130978.1:c.5588+11_5588+43del	NP_001124450.1:n.5588+11_5588+43del
NM_001130979.1:c.5618+11_5618+43del	NP_001124451.1:n.5618+11_5618+43del
NM_001130980.1:c.5576+11_5576+43del	NP_001124452.1:n.5576+11_5576+43del
NM_001130981.1:c.5639+11_5639+43del	NP_001124453.1:n.5639+11_5639+43del
NM_001130982.1:c.5621+11_5621+43del	NP_001124454.1:n.5621+11_5621+43del
NM_001130983.1:c.5591+11_5591+43del	NP_001124455.1:n.5591+11_5591+43del
NM_001130984.1:c.5549+11_5549+43del	NP_001124456.1:n.5549+11_5549+43del
NM_001130985.1:c.5579+11_5579+43del	NP_001124457.1:n.5579+11_5579+43del
NM_001130986.1:c.5486+11_5486+43del	NP_001124458.1:n.5486+11_5486+43del
NM_001130987.1:c.5642+11_5642+43del	NP_001124459.1:n.5642+11_5642+43del
NM_003494.3:c.5525+11_5525+43del	NP_003485.1:n.5525+11_5525+43del
XM_005264584.3:c.5684+11_5684+43del	XP_005264641.1:n.5684+11_5684+43del
XM_005264585.3:c.5681+11_5681+43del	XP_005264642.1:n.5681+11_5681+43del
XM_005264584.4:c.5684+11_5684+43del	XP_005264641.1:n.5684+11_5684+43del
XM_005264585.5:c.5681+11_5681+43del	XP_005264642.1:n.5681+11_5681+43del
NM_001130987.2:c.5642+11_5642+43del MANE Select	NP_001124459.1:n.5642+11_5642+43del
NM_001130455.2:c.5528+11_5528+43del	NP_001123927.1:n.5528+11_5528+43del
NM_001130976.2:c.5483+11_5483+43del	NP_001124448.1:n.5483+11_5483+43del
NM_001130977.2:c.5546+11_5546+43del	NP_001124449.1:n.5546+11_5546+43del
NM_001130978.2:c.5588+11_5588+43del	NP_001124450.1:n.5588+11_5588+43del
NM_001130979.2:c.5618+11_5618+43del	NP_001124451.1:n.5618+11_5618+43del
NM_001130980.2:c.5576+11_5576+43del	NP_001124452.1:n.5576+11_5576+43del
NM_001130981.2:c.5639+11_5639+43del	NP_001124453.1:n.5639+11_5639+43del
NM_001130982.2:c.5621+11_5621+43del	NP_001124454.1:n.5621+11_5621+43del
NM_001130983.2:c.5591+11_5591+43del	NP_001124455.1:n.5591+11_5591+43del
NM_001130984.2:c.5549+11_5549+43del	NP_001124456.1:n.5549+11_5549+43del
NM_001130985.2:c.5579+11_5579+43del	NP_001124457.1:n.5579+11_5579+43del
NM_001130986.2:c.5486+11_5486+43del	NP_001124458.1:n.5486+11_5486+43del
NM_003494.4:c.5525+11_5525+43del MANE Plus Clinical	NP_003485.1:n.5525+11_5525+43del