Canonical Allele Identifier: CA2586969512
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71643994del , CM000664.2:g.71643994del GRCh38
NC_000002.11:g.71871124del , CM000664.1:g.71871124del GRCh37
NC_000002.10:g.71724632del NCBI36
NG_008694.1:g.195372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1971del ENSP00000513536.1:p.Lys657AsnfsTer6
ENST00000698058.1:c.1188del ENSP00000513537.1:p.Lys396AsnfsTer6
ENST00000698059.1:c.1296del ENSP00000513538.1:p.Lys432AsnfsTer6
ENST00000258104.8:c.4440del MANE Plus Clinical ENSP00000258104.3:p.Lys1480AsnfsTer6
ENST00000410020.8:c.4557del MANE Select ENSP00000386881.3:p.Lys1519AsnfsTer6
ENST00000258104.7:c.4440del ENSP00000258104.3:p.Lys1480AsnfsTer6
ENST00000394120.6:c.4443del ENSP00000377678.2:p.Lys1481AsnfsTer6
ENST00000409366.5:c.4506del ENSP00000386512.1:p.Lys1502AsnfsTer6
ENST00000409582.7:c.4554del ENSP00000386547.3:p.Lys1518AsnfsTer6
ENST00000409651.5:c.4536del ENSP00000386683.1:p.Lys1512AsnfsTer6
ENST00000409744.5:c.4464del ENSP00000386285.1:p.Lys1488AsnfsTer6
ENST00000409762.5:c.4491del ENSP00000387137.1:p.Lys1497AsnfsTer6
ENST00000410020.7:c.4557del ENSP00000386881.3:p.Lys1519AsnfsTer6
ENST00000410041.1:c.4494del ENSP00000386617.1:p.Lys1498AsnfsTer6
ENST00000413539.6:c.4533del ENSP00000407046.2:p.Lys1511AsnfsTer6
ENST00000429174.6:c.4503del ENSP00000398305.2:p.Lys1501AsnfsTer6
ENST00000468173.1:n.739del
ENST00000479049.6:n.1325del
NM_001130455.1:c.4443del NP_001123927.1:p.Lys1481AsnfsTer6
NM_001130976.1:c.4398del NP_001124448.1:p.Lys1466AsnfsTer6
NM_001130977.1:c.4461del NP_001124449.1:p.Lys1487AsnfsTer6
NM_001130978.1:c.4503del NP_001124450.1:p.Lys1501AsnfsTer6
NM_001130979.1:c.4533del NP_001124451.1:p.Lys1511AsnfsTer6
NM_001130980.1:c.4491del NP_001124452.1:p.Lys1497AsnfsTer6
NM_001130981.1:c.4554del NP_001124453.1:p.Lys1518AsnfsTer6
NM_001130982.1:c.4536del NP_001124454.1:p.Lys1512AsnfsTer6
NM_001130983.1:c.4506del NP_001124455.1:p.Lys1502AsnfsTer6
NM_001130984.1:c.4464del NP_001124456.1:p.Lys1488AsnfsTer6
NM_001130985.1:c.4494del NP_001124457.1:p.Lys1498AsnfsTer6
NM_001130986.1:c.4401del NP_001124458.1:p.Lys1467AsnfsTer6
NM_001130987.1:c.4557del NP_001124459.1:p.Lys1519AsnfsTer6
NM_003494.3:c.4440del NP_003485.1:p.Lys1480AsnfsTer6
XM_005264584.3:c.4599del XP_005264641.1:p.Lys1533AsnfsTer6
XM_005264585.3:c.4596del XP_005264642.1:p.Lys1532AsnfsTer6
XM_005264584.4:c.4599del XP_005264641.1:p.Lys1533AsnfsTer6
XM_005264585.5:c.4596del XP_005264642.1:p.Lys1532AsnfsTer6
XR_001738969.1:n.4757del
NM_001130987.2:c.4557del MANE Select NP_001124459.1:p.Lys1519AsnfsTer6
NM_001130455.2:c.4443del NP_001123927.1:p.Lys1481AsnfsTer6
NM_001130976.2:c.4398del NP_001124448.1:p.Lys1466AsnfsTer6
NM_001130977.2:c.4461del NP_001124449.1:p.Lys1487AsnfsTer6
NM_001130978.2:c.4503del NP_001124450.1:p.Lys1501AsnfsTer6
NM_001130979.2:c.4533del NP_001124451.1:p.Lys1511AsnfsTer6
NM_001130980.2:c.4491del NP_001124452.1:p.Lys1497AsnfsTer6
NM_001130981.2:c.4554del NP_001124453.1:p.Lys1518AsnfsTer6
NM_001130982.2:c.4536del NP_001124454.1:p.Lys1512AsnfsTer6
NM_001130983.2:c.4506del NP_001124455.1:p.Lys1502AsnfsTer6
NM_001130984.2:c.4464del NP_001124456.1:p.Lys1488AsnfsTer6
NM_001130985.2:c.4494del NP_001124457.1:p.Lys1498AsnfsTer6
NM_001130986.2:c.4401del NP_001124458.1:p.Lys1467AsnfsTer6
NM_003494.4:c.4440del MANE Plus Clinical NP_003485.1:p.Lys1480AsnfsTer6