Canonical Allele Identifier: CA658822436
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 497129
dbSNP Id: rs1573744795

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71526337_71526350dup , CM000664.2:g.71526337_71526350dup GRCh38
NC_000002.11:g.71753467_71753480dup , CM000664.1:g.71753467_71753480dup GRCh37
NC_000002.10:g.71606975_71606988dup NCBI36
NG_008694.1:g.77715_77728dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.8:c.1171_1180+4dup
ENST00000410020.8:c.1267_1276+4dup
ENST00000258104.7:c.1171_1180+4dup
ENST00000394120.6:c.1174_1183+4dup
ENST00000409366.5:c.1174_1183+4dup
ENST00000409582.7:c.1264_1273+4dup
ENST00000409651.5:c.1267_1276+4dup
ENST00000409744.5:c.1174_1183+4dup
ENST00000409762.5:c.1264_1273+4dup
ENST00000410020.7:c.1267_1276+4dup
ENST00000410041.1:c.1267_1276+4dup
ENST00000413539.6:c.1264_1273+4dup
ENST00000429174.6:c.1171_1180+4dup
NM_001130455.1:c.1174_1183+4dup
NM_001130976.1:c.1171_1180+4dup
NM_001130977.1:c.1171_1180+4dup
NM_001130978.1:c.1171_1180+4dup
NM_001130979.1:c.1264_1273+4dup
NM_001130980.1:c.1264_1273+4dup
NM_001130981.1:c.1264_1273+4dup
NM_001130982.1:c.1267_1276+4dup
NM_001130983.1:c.1174_1183+4dup
NM_001130984.1:c.1174_1183+4dup
NM_001130985.1:c.1267_1276+4dup
NM_001130986.1:c.1174_1183+4dup
NM_001130987.1:c.1267_1276+4dup
NM_003494.3:c.1171_1180+4dup
XM_005264584.3:c.1267_1276+4dup
XM_005264585.3:c.1264_1273+4dup
XM_005264584.4:c.1267_1276+4dup
XM_005264585.5:c.1264_1273+4dup
XR_001738969.1:n.1425_1434+4dup
NM_001130987.2:c.1267_1276+4dup
NM_001130455.2:c.1174_1183+4dup
NM_001130976.2:c.1171_1180+4dup
NM_001130977.2:c.1171_1180+4dup
NM_001130978.2:c.1171_1180+4dup
NM_001130979.2:c.1264_1273+4dup
NM_001130980.2:c.1264_1273+4dup
NM_001130981.2:c.1264_1273+4dup
NM_001130982.2:c.1267_1276+4dup
NM_001130983.2:c.1174_1183+4dup
NM_001130984.2:c.1174_1183+4dup
NM_001130985.2:c.1267_1276+4dup
NM_001130986.2:c.1174_1183+4dup
NM_003494.4:c.1171_1180+4dup