Canonical Allele Identifier: CA2577000788

Gene: DYSF

Linked Data

• gnomAD v4: 2-71668928-TTTCTGCCGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71668932_71668942del , CM000664.2:g.71668932_71668942del	GRCh38
NC_000002.11:g.71896062_71896072del , CM000664.1:g.71896062_71896072del	GRCh37
NC_000002.10:g.71749570_71749580del	NCBI36
NG_008694.1:g.220310_220320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2960+90_2960+100del	ENSP00000513536.1:n.2960+90_2960+100del
ENST00000698058.1:c.2177+90_2177+100del	ENSP00000513537.1:n.2177+90_2177+100del
ENST00000698059.1:c.2285+90_2285+100del	ENSP00000513538.1:n.2285+90_2285+100del
ENST00000258104.8:c.5429+90_5429+100del MANE Plus Clinical	ENSP00000258104.3:n.5429+90_5429+100del
ENST00000410020.8:c.5546+90_5546+100del MANE Select	ENSP00000386881.3:n.5546+90_5546+100del
ENST00000258104.7:c.5429+90_5429+100del	ENSP00000258104.3:n.5429+90_5429+100del
ENST00000394120.6:c.5432+90_5432+100del	ENSP00000377678.2:n.5432+90_5432+100del
ENST00000409366.5:c.5495+90_5495+100del	ENSP00000386512.1:n.5495+90_5495+100del
ENST00000409582.7:c.5543+90_5543+100del	ENSP00000386547.3:n.5543+90_5543+100del
ENST00000409651.5:c.5525+90_5525+100del	ENSP00000386683.1:n.5525+90_5525+100del
ENST00000409744.5:c.5453+90_5453+100del	ENSP00000386285.1:n.5453+90_5453+100del
ENST00000409762.5:c.5480+90_5480+100del	ENSP00000387137.1:n.5480+90_5480+100del
ENST00000410020.7:c.5546+90_5546+100del	ENSP00000386881.3:n.5546+90_5546+100del
ENST00000410041.1:c.5483+90_5483+100del	ENSP00000386617.1:n.5483+90_5483+100del
ENST00000413539.6:c.5522+90_5522+100del	ENSP00000407046.2:n.5522+90_5522+100del
ENST00000429174.6:c.5492+90_5492+100del	ENSP00000398305.2:n.5492+90_5492+100del
ENST00000479049.6:n.2314+90_2314+100del
NM_001130455.1:c.5432+90_5432+100del	NP_001123927.1:n.5432+90_5432+100del
NM_001130976.1:c.5387+90_5387+100del	NP_001124448.1:n.5387+90_5387+100del
NM_001130977.1:c.5450+90_5450+100del	NP_001124449.1:n.5450+90_5450+100del
NM_001130978.1:c.5492+90_5492+100del	NP_001124450.1:n.5492+90_5492+100del
NM_001130979.1:c.5522+90_5522+100del	NP_001124451.1:n.5522+90_5522+100del
NM_001130980.1:c.5480+90_5480+100del	NP_001124452.1:n.5480+90_5480+100del
NM_001130981.1:c.5543+90_5543+100del	NP_001124453.1:n.5543+90_5543+100del
NM_001130982.1:c.5525+90_5525+100del	NP_001124454.1:n.5525+90_5525+100del
NM_001130983.1:c.5495+90_5495+100del	NP_001124455.1:n.5495+90_5495+100del
NM_001130984.1:c.5453+90_5453+100del	NP_001124456.1:n.5453+90_5453+100del
NM_001130985.1:c.5483+90_5483+100del	NP_001124457.1:n.5483+90_5483+100del
NM_001130986.1:c.5390+90_5390+100del	NP_001124458.1:n.5390+90_5390+100del
NM_001130987.1:c.5546+90_5546+100del	NP_001124459.1:n.5546+90_5546+100del
NM_003494.3:c.5429+90_5429+100del	NP_003485.1:n.5429+90_5429+100del
XM_005264584.3:c.5588+90_5588+100del	XP_005264641.1:n.5588+90_5588+100del
XM_005264585.3:c.5585+90_5585+100del	XP_005264642.1:n.5585+90_5585+100del
XM_005264584.4:c.5588+90_5588+100del	XP_005264641.1:n.5588+90_5588+100del
XM_005264585.5:c.5585+90_5585+100del	XP_005264642.1:n.5585+90_5585+100del
NM_001130987.2:c.5546+90_5546+100del MANE Select	NP_001124459.1:n.5546+90_5546+100del
NM_001130455.2:c.5432+90_5432+100del	NP_001123927.1:n.5432+90_5432+100del
NM_001130976.2:c.5387+90_5387+100del	NP_001124448.1:n.5387+90_5387+100del
NM_001130977.2:c.5450+90_5450+100del	NP_001124449.1:n.5450+90_5450+100del
NM_001130978.2:c.5492+90_5492+100del	NP_001124450.1:n.5492+90_5492+100del
NM_001130979.2:c.5522+90_5522+100del	NP_001124451.1:n.5522+90_5522+100del
NM_001130980.2:c.5480+90_5480+100del	NP_001124452.1:n.5480+90_5480+100del
NM_001130981.2:c.5543+90_5543+100del	NP_001124453.1:n.5543+90_5543+100del
NM_001130982.2:c.5525+90_5525+100del	NP_001124454.1:n.5525+90_5525+100del
NM_001130983.2:c.5495+90_5495+100del	NP_001124455.1:n.5495+90_5495+100del
NM_001130984.2:c.5453+90_5453+100del	NP_001124456.1:n.5453+90_5453+100del
NM_001130985.2:c.5483+90_5483+100del	NP_001124457.1:n.5483+90_5483+100del
NM_001130986.2:c.5390+90_5390+100del	NP_001124458.1:n.5390+90_5390+100del
NM_003494.4:c.5429+90_5429+100del MANE Plus Clinical	NP_003485.1:n.5429+90_5429+100del