Canonical Allele Identifier: CA253905
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 6670
ClinVar RCV Id: RCV000007054
dbSNP Id: rs786205082

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71664420_71664442dup , CM000664.2:g.71664420_71664442dup GRCh38
NC_000002.11:g.71891550_71891572dup , CM000664.1:g.71891550_71891572dup GRCh37
NC_000002.10:g.71745058_71745080dup NCBI36
NG_008694.1:g.215798_215820dup

Transcript Alleles

HGVS Amino-acid change
ENST00000698057.1:c.2570_2588+4dup
ENST00000698058.1:c.1787_1805+4dup
ENST00000698059.1:c.1895_1913+4dup
ENST00000258104.8:c.5039_5057+4dup
ENST00000410020.8:c.5156_5174+4dup
ENST00000258104.7:c.5039_5057+4dup
ENST00000394120.6:c.5042_5060+4dup
ENST00000409366.5:c.5105_5123+4dup
ENST00000409582.7:c.5153_5171+4dup
ENST00000409651.5:c.5135_5153+4dup
ENST00000409744.5:c.5063_5081+4dup
ENST00000409762.5:c.5090_5108+4dup
ENST00000410020.7:c.5156_5174+4dup
ENST00000410041.1:c.5093_5111+4dup
ENST00000413539.6:c.5132_5150+4dup
ENST00000429174.6:c.5102_5120+4dup
ENST00000479049.6:n.1924_1942+4dup
NM_001130455.1:c.5042_5060+4dup
NM_001130976.1:c.4997_5015+4dup
NM_001130977.1:c.5060_5078+4dup
NM_001130978.1:c.5102_5120+4dup
NM_001130979.1:c.5132_5150+4dup
NM_001130980.1:c.5090_5108+4dup
NM_001130981.1:c.5153_5171+4dup
NM_001130982.1:c.5135_5153+4dup
NM_001130983.1:c.5105_5123+4dup
NM_001130984.1:c.5063_5081+4dup
NM_001130985.1:c.5093_5111+4dup
NM_001130986.1:c.5000_5018+4dup
NM_001130987.1:c.5156_5174+4dup
NM_003494.3:c.5039_5057+4dup
XM_005264584.3:c.5198_5216+4dup
XM_005264585.3:c.5195_5213+4dup
XM_005264584.4:c.5198_5216+4dup
XM_005264585.5:c.5195_5213+4dup
XR_001738969.1:n.5356_5378dup
NM_001130987.2:c.5156_5174+4dup
NM_001130455.2:c.5042_5060+4dup
NM_001130976.2:c.4997_5015+4dup
NM_001130977.2:c.5060_5078+4dup
NM_001130978.2:c.5102_5120+4dup
NM_001130979.2:c.5132_5150+4dup
NM_001130980.2:c.5090_5108+4dup
NM_001130981.2:c.5153_5171+4dup
NM_001130982.2:c.5135_5153+4dup
NM_001130983.2:c.5105_5123+4dup
NM_001130984.2:c.5063_5081+4dup
NM_001130985.2:c.5093_5111+4dup
NM_001130986.2:c.5000_5018+4dup
NM_003494.4:c.5039_5057+4dup