Canonical Allele Identifier: CA1260152489

Gene: DYSF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669723_71669724delinsCA , CM000664.2:g.71669723_71669724delinsCA	GRCh38
NC_000002.11:g.71896853_71896854delinsCA , CM000664.1:g.71896853_71896854delinsCA	GRCh37
NC_000002.10:g.71750361_71750362delinsCA	NCBI36
NG_008694.1:g.221101_221102delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3175_3176delinsCA	ENSP00000513536.1:p.Gln1059=
ENST00000698058.1:c.2392_2393delinsCA	ENSP00000513537.1:p.Gln798=
ENST00000698059.1:c.2500_2501delinsCA	ENSP00000513538.1:p.Gln834=
ENST00000258104.8:c.5644_5645delinsCA MANE Plus Clinical	ENSP00000258104.3:p.Gln1882=
ENST00000410020.8:c.5761_5762delinsCA MANE Select	ENSP00000386881.3:p.Gln1921=
ENST00000258104.7:c.5644_5645delinsCA	ENSP00000258104.3:p.Gln1882=
ENST00000394120.6:c.5647_5648delinsCA	ENSP00000377678.2:p.Gln1883=
ENST00000409366.5:c.5710_5711delinsCA	ENSP00000386512.1:p.Gln1904=
ENST00000409582.7:c.5758_5759delinsCA	ENSP00000386547.3:p.Gln1920=
ENST00000409651.5:c.5740_5741delinsCA	ENSP00000386683.1:p.Gln1914=
ENST00000409744.5:c.5668_5669delinsCA	ENSP00000386285.1:p.Gln1890=
ENST00000409762.5:c.5695_5696delinsCA	ENSP00000387137.1:p.Gln1899=
ENST00000410020.7:c.5761_5762delinsCA	ENSP00000386881.3:p.Gln1921=
ENST00000410041.1:c.5698_5699delinsCA	ENSP00000386617.1:p.Gln1900=
ENST00000413539.6:c.5737_5738delinsCA	ENSP00000407046.2:p.Gln1913=
ENST00000429174.6:c.5707_5708delinsCA	ENSP00000398305.2:p.Gln1903=
ENST00000479049.6:n.2529_2530delinsCA
NM_001130455.1:c.5647_5648delinsCA	NP_001123927.1:p.Gln1883=
NM_001130976.1:c.5602_5603delinsCA	NP_001124448.1:p.Gln1868=
NM_001130977.1:c.5665_5666delinsCA	NP_001124449.1:p.Gln1889=
NM_001130978.1:c.5707_5708delinsCA	NP_001124450.1:p.Gln1903=
NM_001130979.1:c.5737_5738delinsCA	NP_001124451.1:p.Gln1913=
NM_001130980.1:c.5695_5696delinsCA	NP_001124452.1:p.Gln1899=
NM_001130981.1:c.5758_5759delinsCA	NP_001124453.1:p.Gln1920=
NM_001130982.1:c.5740_5741delinsCA	NP_001124454.1:p.Gln1914=
NM_001130983.1:c.5710_5711delinsCA	NP_001124455.1:p.Gln1904=
NM_001130984.1:c.5668_5669delinsCA	NP_001124456.1:p.Gln1890=
NM_001130985.1:c.5698_5699delinsCA	NP_001124457.1:p.Gln1900=
NM_001130986.1:c.5605_5606delinsCA	NP_001124458.1:p.Gln1869=
NM_001130987.1:c.5761_5762delinsCA	NP_001124459.1:p.Gln1921=
NM_003494.3:c.5644_5645delinsCA	NP_003485.1:p.Gln1882=
XM_005264584.3:c.5803_5804delinsCA	XP_005264641.1:p.Gln1935=
XM_005264585.3:c.5800_5801delinsCA	XP_005264642.1:p.Gln1934=
XM_005264584.4:c.5803_5804delinsCA	XP_005264641.1:p.Gln1935=
XM_005264585.5:c.5800_5801delinsCA	XP_005264642.1:p.Gln1934=
NM_001130987.2:c.5761_5762delinsCA MANE Select	NP_001124459.1:p.Gln1921=
NM_001130455.2:c.5647_5648delinsCA	NP_001123927.1:p.Gln1883=
NM_001130976.2:c.5602_5603delinsCA	NP_001124448.1:p.Gln1868=
NM_001130977.2:c.5665_5666delinsCA	NP_001124449.1:p.Gln1889=
NM_001130978.2:c.5707_5708delinsCA	NP_001124450.1:p.Gln1903=
NM_001130979.2:c.5737_5738delinsCA	NP_001124451.1:p.Gln1913=
NM_001130980.2:c.5695_5696delinsCA	NP_001124452.1:p.Gln1899=
NM_001130981.2:c.5758_5759delinsCA	NP_001124453.1:p.Gln1920=
NM_001130982.2:c.5740_5741delinsCA	NP_001124454.1:p.Gln1914=
NM_001130983.2:c.5710_5711delinsCA	NP_001124455.1:p.Gln1904=
NM_001130984.2:c.5668_5669delinsCA	NP_001124456.1:p.Gln1890=
NM_001130985.2:c.5698_5699delinsCA	NP_001124457.1:p.Gln1900=
NM_001130986.2:c.5605_5606delinsCA	NP_001124458.1:p.Gln1869=
NM_003494.4:c.5644_5645delinsCA MANE Plus Clinical	NP_003485.1:p.Gln1882=