Canonical Allele Identifier: CA1260120263
Gene: DYSF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71602886_71602893delinsCTTCCAGG , CM000664.2:g.71602886_71602893delinsCTTCCAGG GRCh38
NC_000002.11:g.71830016_71830023delinsCTTCCAGG , CM000664.1:g.71830016_71830023delinsCTTCCAGG GRCh37
NC_000002.10:g.71683524_71683531delinsCTTCCAGG NCBI36
NG_008694.1:g.154264_154271delinsCTTCCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1329+81_1329+88delinsCTTCCAGG ENSP00000513536.1:n.1329+81_1329+88delinsCTTCCAGG
ENST00000698058.1:c.546+81_546+88delinsCTTCCAGG ENSP00000513537.1:n.546+81_546+88delinsCTTCCAGG
ENST00000698059.1:c.546+81_546+88delinsCTTCCAGG ENSP00000513538.1:n.546+81_546+88delinsCTTCCAGG
ENST00000258104.8:c.3903+81_3903+88delinsCTTCCAGG MANE Plus Clinical ENSP00000258104.3:n.3903+81_3903+88delinsCTTCCAGG
ENST00000410020.8:c.3957+81_3957+88delinsCTTCCAGG MANE Select ENSP00000386881.3:n.3957+81_3957+88delinsCTTCCAGG
ENST00000258104.7:c.3903+81_3903+88delinsCTTCCAGG ENSP00000258104.3:n.3903+81_3903+88delinsCTTCCAGG
ENST00000394120.6:c.3906+81_3906+88delinsCTTCCAGG ENSP00000377678.2:n.3906+81_3906+88delinsCTTCCAGG
ENST00000409366.5:c.3906+81_3906+88delinsCTTCCAGG ENSP00000386512.1:n.3906+81_3906+88delinsCTTCCAGG
ENST00000409582.7:c.3954+81_3954+88delinsCTTCCAGG ENSP00000386547.3:n.3954+81_3954+88delinsCTTCCAGG
ENST00000409651.5:c.3999+81_3999+88delinsCTTCCAGG ENSP00000386683.1:n.3999+81_3999+88delinsCTTCCAGG
ENST00000409744.5:c.3864+81_3864+88delinsCTTCCAGG ENSP00000386285.1:n.3864+81_3864+88delinsCTTCCAGG
ENST00000409762.5:c.3954+81_3954+88delinsCTTCCAGG ENSP00000387137.1:n.3954+81_3954+88delinsCTTCCAGG
ENST00000410020.7:c.3957+81_3957+88delinsCTTCCAGG ENSP00000386881.3:n.3957+81_3957+88delinsCTTCCAGG
ENST00000410041.1:c.3957+81_3957+88delinsCTTCCAGG ENSP00000386617.1:n.3957+81_3957+88delinsCTTCCAGG
ENST00000413539.6:c.3996+81_3996+88delinsCTTCCAGG ENSP00000407046.2:n.3996+81_3996+88delinsCTTCCAGG
ENST00000429174.6:c.3903+81_3903+88delinsCTTCCAGG ENSP00000398305.2:n.3903+81_3903+88delinsCTTCCAGG
ENST00000472873.5:n.287+81_287+88delinsCTTCCAGG
ENST00000479049.6:n.788+81_788+88delinsCTTCCAGG
ENST00000487180.5:n.122+81_122+88delinsCTTCCAGG
ENST00000494501.5:n.263+81_263+88delinsCTTCCAGG
NM_001130455.1:c.3906+81_3906+88delinsCTTCCAGG NP_001123927.1:n.3906+81_3906+88delinsCTTCCAGG
NM_001130976.1:c.3861+81_3861+88delinsCTTCCAGG NP_001124448.1:n.3861+81_3861+88delinsCTTCCAGG
NM_001130977.1:c.3861+81_3861+88delinsCTTCCAGG NP_001124449.1:n.3861+81_3861+88delinsCTTCCAGG
NM_001130978.1:c.3903+81_3903+88delinsCTTCCAGG NP_001124450.1:n.3903+81_3903+88delinsCTTCCAGG
NM_001130979.1:c.3996+81_3996+88delinsCTTCCAGG NP_001124451.1:n.3996+81_3996+88delinsCTTCCAGG
NM_001130980.1:c.3954+81_3954+88delinsCTTCCAGG NP_001124452.1:n.3954+81_3954+88delinsCTTCCAGG
NM_001130981.1:c.3954+81_3954+88delinsCTTCCAGG NP_001124453.1:n.3954+81_3954+88delinsCTTCCAGG
NM_001130982.1:c.3999+81_3999+88delinsCTTCCAGG NP_001124454.1:n.3999+81_3999+88delinsCTTCCAGG
NM_001130983.1:c.3906+81_3906+88delinsCTTCCAGG NP_001124455.1:n.3906+81_3906+88delinsCTTCCAGG
NM_001130984.1:c.3864+81_3864+88delinsCTTCCAGG NP_001124456.1:n.3864+81_3864+88delinsCTTCCAGG
NM_001130985.1:c.3957+81_3957+88delinsCTTCCAGG NP_001124457.1:n.3957+81_3957+88delinsCTTCCAGG
NM_001130986.1:c.3864+81_3864+88delinsCTTCCAGG NP_001124458.1:n.3864+81_3864+88delinsCTTCCAGG
NM_001130987.1:c.3957+81_3957+88delinsCTTCCAGG NP_001124459.1:n.3957+81_3957+88delinsCTTCCAGG
NM_003494.3:c.3903+81_3903+88delinsCTTCCAGG NP_003485.1:n.3903+81_3903+88delinsCTTCCAGG
XM_005264584.3:c.3999+81_3999+88delinsCTTCCAGG XP_005264641.1:n.3999+81_3999+88delinsCTTCCAGG
XM_005264585.3:c.3996+81_3996+88delinsCTTCCAGG XP_005264642.1:n.3996+81_3996+88delinsCTTCCAGG
XM_005264584.4:c.3999+81_3999+88delinsCTTCCAGG XP_005264641.1:n.3999+81_3999+88delinsCTTCCAGG
XM_005264585.5:c.3996+81_3996+88delinsCTTCCAGG XP_005264642.1:n.3996+81_3996+88delinsCTTCCAGG
XR_001738969.1:n.4157+81_4157+88delinsCTTCCAGG
NM_001130987.2:c.3957+81_3957+88delinsCTTCCAGG MANE Select NP_001124459.1:n.3957+81_3957+88delinsCTTCCAGG
NM_001130455.2:c.3906+81_3906+88delinsCTTCCAGG NP_001123927.1:n.3906+81_3906+88delinsCTTCCAGG
NM_001130976.2:c.3861+81_3861+88delinsCTTCCAGG NP_001124448.1:n.3861+81_3861+88delinsCTTCCAGG
NM_001130977.2:c.3861+81_3861+88delinsCTTCCAGG NP_001124449.1:n.3861+81_3861+88delinsCTTCCAGG
NM_001130978.2:c.3903+81_3903+88delinsCTTCCAGG NP_001124450.1:n.3903+81_3903+88delinsCTTCCAGG
NM_001130979.2:c.3996+81_3996+88delinsCTTCCAGG NP_001124451.1:n.3996+81_3996+88delinsCTTCCAGG
NM_001130980.2:c.3954+81_3954+88delinsCTTCCAGG NP_001124452.1:n.3954+81_3954+88delinsCTTCCAGG
NM_001130981.2:c.3954+81_3954+88delinsCTTCCAGG NP_001124453.1:n.3954+81_3954+88delinsCTTCCAGG
NM_001130982.2:c.3999+81_3999+88delinsCTTCCAGG NP_001124454.1:n.3999+81_3999+88delinsCTTCCAGG
NM_001130983.2:c.3906+81_3906+88delinsCTTCCAGG NP_001124455.1:n.3906+81_3906+88delinsCTTCCAGG
NM_001130984.2:c.3864+81_3864+88delinsCTTCCAGG NP_001124456.1:n.3864+81_3864+88delinsCTTCCAGG
NM_001130985.2:c.3957+81_3957+88delinsCTTCCAGG NP_001124457.1:n.3957+81_3957+88delinsCTTCCAGG
NM_001130986.2:c.3864+81_3864+88delinsCTTCCAGG NP_001124458.1:n.3864+81_3864+88delinsCTTCCAGG
NM_003494.4:c.3903+81_3903+88delinsCTTCCAGG MANE Plus Clinical NP_003485.1:n.3903+81_3903+88delinsCTTCCAGG
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