Canonical Allele Identifier: CA1260152061

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71668883_71668884delinsTG , CM000664.2:g.71668883_71668884delinsTG	GRCh38
NC_000002.11:g.71896013_71896014delinsTG , CM000664.1:g.71896013_71896014delinsTG	GRCh37
NC_000002.10:g.71749521_71749522delinsTG	NCBI36
NG_008694.1:g.220261_220262delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.2960+41_2960+42delinsTG	ENSP00000513536.1:n.2960+41_2960+42delinsTG
ENST00000698058.1:c.2177+41_2177+42delinsTG	ENSP00000513537.1:n.2177+41_2177+42delinsTG
ENST00000698059.1:c.2285+41_2285+42delinsTG	ENSP00000513538.1:n.2285+41_2285+42delinsTG
ENST00000258104.8:c.5429+41_5429+42delinsTG MANE Plus Clinical	ENSP00000258104.3:n.5429+41_5429+42delinsTG
ENST00000410020.8:c.5546+41_5546+42delinsTG MANE Select	ENSP00000386881.3:n.5546+41_5546+42delinsTG
ENST00000258104.7:c.5429+41_5429+42delinsTG	ENSP00000258104.3:n.5429+41_5429+42delinsTG
ENST00000394120.6:c.5432+41_5432+42delinsTG	ENSP00000377678.2:n.5432+41_5432+42delinsTG
ENST00000409366.5:c.5495+41_5495+42delinsTG	ENSP00000386512.1:n.5495+41_5495+42delinsTG
ENST00000409582.7:c.5543+41_5543+42delinsTG	ENSP00000386547.3:n.5543+41_5543+42delinsTG
ENST00000409651.5:c.5525+41_5525+42delinsTG	ENSP00000386683.1:n.5525+41_5525+42delinsTG
ENST00000409744.5:c.5453+41_5453+42delinsTG	ENSP00000386285.1:n.5453+41_5453+42delinsTG
ENST00000409762.5:c.5480+41_5480+42delinsTG	ENSP00000387137.1:n.5480+41_5480+42delinsTG
ENST00000410020.7:c.5546+41_5546+42delinsTG	ENSP00000386881.3:n.5546+41_5546+42delinsTG
ENST00000410041.1:c.5483+41_5483+42delinsTG	ENSP00000386617.1:n.5483+41_5483+42delinsTG
ENST00000413539.6:c.5522+41_5522+42delinsTG	ENSP00000407046.2:n.5522+41_5522+42delinsTG
ENST00000429174.6:c.5492+41_5492+42delinsTG	ENSP00000398305.2:n.5492+41_5492+42delinsTG
ENST00000479049.6:n.2314+41_2314+42delinsTG
NM_001130455.1:c.5432+41_5432+42delinsTG	NP_001123927.1:n.5432+41_5432+42delinsTG
NM_001130976.1:c.5387+41_5387+42delinsTG	NP_001124448.1:n.5387+41_5387+42delinsTG
NM_001130977.1:c.5450+41_5450+42delinsTG	NP_001124449.1:n.5450+41_5450+42delinsTG
NM_001130978.1:c.5492+41_5492+42delinsTG	NP_001124450.1:n.5492+41_5492+42delinsTG
NM_001130979.1:c.5522+41_5522+42delinsTG	NP_001124451.1:n.5522+41_5522+42delinsTG
NM_001130980.1:c.5480+41_5480+42delinsTG	NP_001124452.1:n.5480+41_5480+42delinsTG
NM_001130981.1:c.5543+41_5543+42delinsTG	NP_001124453.1:n.5543+41_5543+42delinsTG
NM_001130982.1:c.5525+41_5525+42delinsTG	NP_001124454.1:n.5525+41_5525+42delinsTG
NM_001130983.1:c.5495+41_5495+42delinsTG	NP_001124455.1:n.5495+41_5495+42delinsTG
NM_001130984.1:c.5453+41_5453+42delinsTG	NP_001124456.1:n.5453+41_5453+42delinsTG
NM_001130985.1:c.5483+41_5483+42delinsTG	NP_001124457.1:n.5483+41_5483+42delinsTG
NM_001130986.1:c.5390+41_5390+42delinsTG	NP_001124458.1:n.5390+41_5390+42delinsTG
NM_001130987.1:c.5546+41_5546+42delinsTG	NP_001124459.1:n.5546+41_5546+42delinsTG
NM_003494.3:c.5429+41_5429+42delinsTG	NP_003485.1:n.5429+41_5429+42delinsTG
XM_005264584.3:c.5588+41_5588+42delinsTG	XP_005264641.1:n.5588+41_5588+42delinsTG
XM_005264585.3:c.5585+41_5585+42delinsTG	XP_005264642.1:n.5585+41_5585+42delinsTG
XM_005264584.4:c.5588+41_5588+42delinsTG	XP_005264641.1:n.5588+41_5588+42delinsTG
XM_005264585.5:c.5585+41_5585+42delinsTG	XP_005264642.1:n.5585+41_5585+42delinsTG
NM_001130987.2:c.5546+41_5546+42delinsTG MANE Select	NP_001124459.1:n.5546+41_5546+42delinsTG
NM_001130455.2:c.5432+41_5432+42delinsTG	NP_001123927.1:n.5432+41_5432+42delinsTG
NM_001130976.2:c.5387+41_5387+42delinsTG	NP_001124448.1:n.5387+41_5387+42delinsTG
NM_001130977.2:c.5450+41_5450+42delinsTG	NP_001124449.1:n.5450+41_5450+42delinsTG
NM_001130978.2:c.5492+41_5492+42delinsTG	NP_001124450.1:n.5492+41_5492+42delinsTG
NM_001130979.2:c.5522+41_5522+42delinsTG	NP_001124451.1:n.5522+41_5522+42delinsTG
NM_001130980.2:c.5480+41_5480+42delinsTG	NP_001124452.1:n.5480+41_5480+42delinsTG
NM_001130981.2:c.5543+41_5543+42delinsTG	NP_001124453.1:n.5543+41_5543+42delinsTG
NM_001130982.2:c.5525+41_5525+42delinsTG	NP_001124454.1:n.5525+41_5525+42delinsTG
NM_001130983.2:c.5495+41_5495+42delinsTG	NP_001124455.1:n.5495+41_5495+42delinsTG
NM_001130984.2:c.5453+41_5453+42delinsTG	NP_001124456.1:n.5453+41_5453+42delinsTG
NM_001130985.2:c.5483+41_5483+42delinsTG	NP_001124457.1:n.5483+41_5483+42delinsTG
NM_001130986.2:c.5390+41_5390+42delinsTG	NP_001124458.1:n.5390+41_5390+42delinsTG
NM_003494.4:c.5429+41_5429+42delinsTG MANE Plus Clinical	NP_003485.1:n.5429+41_5429+42delinsTG