Canonical Allele Identifier: CA1706939
Community Standard Title: NM_001130987.2(DYSF):c.4254del (p.Ile1419SerfsTer?)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71612673del , CM000664.2:g.71612673del GRCh38
NC_000002.11:g.71839803del , CM000664.1:g.71839803del GRCh37
NC_000002.10:g.71693311del NCBI36
NG_008694.1:g.164051del

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4254del MANE Select NP_001124459.1:p.Ile1419SerfsTer?
ENST00000410020.8:c.4254del MANE Select ENSP00000386881.3:p.Ile1419SerfsTer?
NM_003494.4:c.4200del MANE Plus Clinical NP_003485.1:p.Ile1401SerfsTer?
ENST00000258104.8:c.4200del MANE Plus Clinical ENSP00000258104.3:p.Ile1401SerfsTer?
NM_001130455.1:c.4203del NP_001123927.1:p.Ile1402SerfsTer?
NM_001130455.2:c.4203del NP_001123927.1:p.Ile1402SerfsTer?
NM_001130976.1:c.4158del NP_001124448.1:p.Ile1387SerfsTer?
NM_001130976.2:c.4158del NP_001124448.1:p.Ile1387SerfsTer?
NM_001130977.1:c.4158del NP_001124449.1:p.Ile1387SerfsTer?
NM_001130977.2:c.4158del NP_001124449.1:p.Ile1387SerfsTer?
NM_001130978.1:c.4200del NP_001124450.1:p.Ile1401SerfsTer?
NM_001130978.2:c.4200del NP_001124450.1:p.Ile1401SerfsTer?
NM_001130979.1:c.4293del NP_001124451.1:p.Ile1432SerfsTer?
NM_001130979.2:c.4293del NP_001124451.1:p.Ile1432SerfsTer?
NM_001130980.1:c.4251del NP_001124452.1:p.Ile1418SerfsTer?
NM_001130980.2:c.4251del NP_001124452.1:p.Ile1418SerfsTer?
NM_001130981.1:c.4251del NP_001124453.1:p.Ile1418SerfsTer?
NM_001130981.2:c.4251del NP_001124453.1:p.Ile1418SerfsTer?
NM_001130982.1:c.4296del NP_001124454.1:p.Ile1433SerfsTer?
NM_001130982.2:c.4296del NP_001124454.1:p.Ile1433SerfsTer?
NM_001130983.1:c.4203del NP_001124455.1:p.Ile1402SerfsTer?
NM_001130983.2:c.4203del NP_001124455.1:p.Ile1402SerfsTer?
NM_001130984.1:c.4161del NP_001124456.1:p.Ile1388SerfsTer?
NM_001130984.2:c.4161del NP_001124456.1:p.Ile1388SerfsTer?
NM_001130985.1:c.4254del NP_001124457.1:p.Ile1419SerfsTer?
NM_001130985.2:c.4254del NP_001124457.1:p.Ile1419SerfsTer?
NM_001130986.1:c.4161del NP_001124458.1:p.Ile1388SerfsTer?
NM_001130986.2:c.4161del NP_001124458.1:p.Ile1388SerfsTer?
NM_001130987.1:c.4254del NP_001124459.1:p.Ile1419SerfsTer?
NM_003494.3:c.4200del NP_003485.1:p.Ile1401SerfsTer?
ENST00000258104.7:c.4200del ENSP00000258104.3:p.Ile1401SerfsTer?
ENST00000394120.6:c.4203del ENSP00000377678.2:p.Ile1402SerfsTer?
ENST00000409366.5:c.4203del ENSP00000386512.1:p.Ile1402SerfsTer?
ENST00000409582.7:c.4251del ENSP00000386547.3:p.Ile1418SerfsTer?
ENST00000409651.5:c.4296del ENSP00000386683.1:p.Ile1433SerfsTer?
ENST00000409744.5:c.4161del ENSP00000386285.1:p.Ile1388SerfsTer?
ENST00000409762.5:c.4251del ENSP00000387137.1:p.Ile1418SerfsTer?
ENST00000410020.7:c.4254del ENSP00000386881.3:p.Ile1419SerfsTer?
ENST00000410041.1:c.4254del ENSP00000386617.1:p.Ile1419SerfsTer?
ENST00000413539.6:c.4293del ENSP00000407046.2:p.Ile1432SerfsTer?
ENST00000429174.6:c.4200del ENSP00000398305.2:p.Ile1401SerfsTer?
ENST00000468173.1:n.436del
ENST00000472873.5:n.584del
ENST00000479049.6:n.1085del
ENST00000487180.5:n.419del
ENST00000494501.5:n.498del
ENST00000698057.1:c.1668del ENSP00000513536.1:p.Ile557SerfsTer?
ENST00000698058.1:c.885del ENSP00000513537.1:p.Ile296SerfsTer?
ENST00000698059.1:c.843del ENSP00000513538.1:p.Ile282SerfsTer?
XM_005264584.3:c.4296del XP_005264641.1:p.Ile1433SerfsTer?
XM_005264584.4:c.4296del XP_005264641.1:p.Ile1433SerfsTer?
XM_005264585.3:c.4293del XP_005264642.1:p.Ile1432SerfsTer?
XM_005264585.5:c.4293del XP_005264642.1:p.Ile1432SerfsTer?
XR_001738969.1:n.4454del