Canonical Allele Identifier: CA10604426
Community Standard Title: NM_001130987.2(DYSF):c.4614del (p.Phe1538LeufsTer4)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71644051del , CM000664.2:g.71644051del GRCh38
NC_000002.11:g.71871181del , CM000664.1:g.71871181del GRCh37
NC_000002.10:g.71724689del NCBI36
NG_008694.1:g.195429del

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4614del MANE Select NP_001124459.1:p.Phe1538LeufsTer4
ENST00000410020.8:c.4614del MANE Select ENSP00000386881.3:p.Phe1538LeufsTer4
NM_003494.4:c.4497del MANE Plus Clinical NP_003485.1:p.Phe1499LeufsTer4
ENST00000258104.8:c.4497del MANE Plus Clinical ENSP00000258104.3:p.Phe1499LeufsTer4
NM_001130455.1:c.4500del NP_001123927.1:p.Phe1500LeufsTer4
NM_001130455.2:c.4500del NP_001123927.1:p.Phe1500LeufsTer4
NM_001130976.1:c.4455del NP_001124448.1:p.Phe1485LeufsTer4
NM_001130976.2:c.4455del NP_001124448.1:p.Phe1485LeufsTer4
NM_001130977.1:c.4518del NP_001124449.1:p.Phe1506LeufsTer4
NM_001130977.2:c.4518del NP_001124449.1:p.Phe1506LeufsTer4
NM_001130978.1:c.4560del NP_001124450.1:p.Phe1520LeufsTer4
NM_001130978.2:c.4560del NP_001124450.1:p.Phe1520LeufsTer4
NM_001130979.1:c.4590del NP_001124451.1:p.Phe1530LeufsTer4
NM_001130979.2:c.4590del NP_001124451.1:p.Phe1530LeufsTer4
NM_001130980.1:c.4548del NP_001124452.1:p.Phe1516LeufsTer4
NM_001130980.2:c.4548del NP_001124452.1:p.Phe1516LeufsTer4
NM_001130981.1:c.4611del NP_001124453.1:p.Phe1537LeufsTer4
NM_001130981.2:c.4611del NP_001124453.1:p.Phe1537LeufsTer4
NM_001130982.1:c.4593del NP_001124454.1:p.Phe1531LeufsTer4
NM_001130982.2:c.4593del NP_001124454.1:p.Phe1531LeufsTer4
NM_001130983.1:c.4563del NP_001124455.1:p.Phe1521LeufsTer4
NM_001130983.2:c.4563del NP_001124455.1:p.Phe1521LeufsTer4
NM_001130984.1:c.4521del NP_001124456.1:p.Phe1507LeufsTer4
NM_001130984.2:c.4521del NP_001124456.1:p.Phe1507LeufsTer4
NM_001130985.1:c.4551del NP_001124457.1:p.Phe1517LeufsTer4
NM_001130985.2:c.4551del NP_001124457.1:p.Phe1517LeufsTer4
NM_001130986.1:c.4458del NP_001124458.1:p.Phe1486LeufsTer4
NM_001130986.2:c.4458del NP_001124458.1:p.Phe1486LeufsTer4
NM_001130987.1:c.4614del NP_001124459.1:p.Phe1538LeufsTer4
NM_003494.3:c.4497del NP_003485.1:p.Phe1499LeufsTer4
ENST00000258104.7:c.4497del ENSP00000258104.3:p.Phe1499LeufsTer4
ENST00000394120.6:c.4500del ENSP00000377678.2:p.Phe1500LeufsTer4
ENST00000409366.5:c.4563del ENSP00000386512.1:p.Phe1521LeufsTer4
ENST00000409582.7:c.4611del ENSP00000386547.3:p.Phe1537LeufsTer4
ENST00000409651.5:c.4593del ENSP00000386683.1:p.Phe1531LeufsTer4
ENST00000409744.5:c.4521del ENSP00000386285.1:p.Phe1507LeufsTer4
ENST00000409762.5:c.4548del ENSP00000387137.1:p.Phe1516LeufsTer4
ENST00000410020.7:c.4614del ENSP00000386881.3:p.Phe1538LeufsTer4
ENST00000410041.1:c.4551del ENSP00000386617.1:p.Phe1517LeufsTer4
ENST00000413539.6:c.4590del ENSP00000407046.2:p.Phe1530LeufsTer4
ENST00000429174.6:c.4560del ENSP00000398305.2:p.Phe1520LeufsTer4
ENST00000479049.6:n.1382del
ENST00000698057.1:c.2028del ENSP00000513536.1:p.Phe676LeufsTer4
ENST00000698058.1:c.1245del ENSP00000513537.1:p.Phe415LeufsTer4
ENST00000698059.1:c.1353del ENSP00000513538.1:p.Phe451LeufsTer4
XM_005264584.3:c.4656del XP_005264641.1:p.Phe1552LeufsTer4
XM_005264584.4:c.4656del XP_005264641.1:p.Phe1552LeufsTer4
XM_005264585.3:c.4653del XP_005264642.1:p.Phe1551LeufsTer4
XM_005264585.5:c.4653del XP_005264642.1:p.Phe1551LeufsTer4
XR_001738969.1:n.4814del