Canonical Allele Identifier: CA2832612268
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611245_71613410del , CM000664.2:g.71611245_71613410del GRCh38
NC_000002.11:g.71838375_71840540del , CM000664.1:g.71838375_71840540del GRCh37
NC_000002.10:g.71691883_71694048del NCBI36
NG_008694.1:g.162623_164788del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1372_1878del
ENST00000698058.1:c.589_1095del
ENST00000698059.1:c.547_1053del
ENST00000258104.8:c.3904_4410del
ENST00000410020.8:c.3958_4464del
ENST00000258104.7:c.3904_4410del
ENST00000394120.6:c.3907_4413del
ENST00000409366.5:c.3907_4413del
ENST00000409582.7:c.3955_4461del
ENST00000409651.5:c.4000_4506del
ENST00000409744.5:c.3865_4371del
ENST00000409762.5:c.3955_4461del
ENST00000410020.7:c.3958_4464del
ENST00000410041.1:c.3958_4464del
ENST00000413539.6:c.3997_4503del
ENST00000429174.6:c.3904_4410del
ENST00000468173.1:n.140_646del
ENST00000479049.6:n.789_1295del
NM_001130455.1:c.3907_4413del
NM_001130976.1:c.3862_4368del
NM_001130977.1:c.3862_4368del
NM_001130978.1:c.3904_4410del
NM_001130979.1:c.3997_4503del
NM_001130980.1:c.3955_4461del
NM_001130981.1:c.3955_4461del
NM_001130982.1:c.4000_4506del
NM_001130983.1:c.3907_4413del
NM_001130984.1:c.3865_4371del
NM_001130985.1:c.3958_4464del
NM_001130986.1:c.3865_4371del
NM_001130987.1:c.3958_4464del
NM_003494.3:c.3904_4410del
XM_005264584.3:c.4000_4506del
XM_005264585.3:c.3997_4503del
XM_005264584.4:c.4000_4506del
XM_005264585.5:c.3997_4503del
XR_001738969.1:n.4158_4664del
NM_001130987.2:c.3958_4464del
NM_001130455.2:c.3907_4413del
NM_001130976.2:c.3862_4368del
NM_001130977.2:c.3862_4368del
NM_001130978.2:c.3904_4410del
NM_001130979.2:c.3997_4503del
NM_001130980.2:c.3955_4461del
NM_001130981.2:c.3955_4461del
NM_001130982.2:c.4000_4506del
NM_001130983.2:c.3907_4413del
NM_001130984.2:c.3865_4371del
NM_001130985.2:c.3958_4464del
NM_001130986.2:c.3865_4371del
NM_003494.4:c.3904_4410del