Canonical Allele Identifier: CA222196
Community Standard Title: NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985TrpfsTer19)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71679125_71679128del , CM000664.2:g.71679125_71679128del GRCh38
NC_000002.11:g.71906255_71906258del , CM000664.1:g.71906255_71906258del GRCh37
NC_000002.10:g.71759763_71759766del NCBI36
NG_008694.1:g.230503_230506del

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.5953_5956del MANE Select NP_001124459.1:p.Gln1985TrpfsTer19
ENST00000410020.8:c.5953_5956del MANE Select ENSP00000386881.3:p.Gln1985TrpfsTer19
NM_003494.4:c.5836_5839del MANE Plus Clinical NP_003485.1:p.Gln1946TrpfsTer19
ENST00000258104.8:c.5836_5839del MANE Plus Clinical ENSP00000258104.3:p.Gln1946TrpfsTer19
NM_001130455.1:c.5839_5842del NP_001123927.1:p.Gln1947TrpfsTer19
NM_001130455.2:c.5839_5842del NP_001123927.1:p.Gln1947TrpfsTer19
NM_001130976.1:c.5794_5797del NP_001124448.1:p.Gln1932TrpfsTer19
NM_001130976.2:c.5794_5797del NP_001124448.1:p.Gln1932TrpfsTer19
NM_001130977.1:c.5857_5860del NP_001124449.1:p.Gln1953TrpfsTer19
NM_001130977.2:c.5857_5860del NP_001124449.1:p.Gln1953TrpfsTer19
NM_001130978.1:c.5899_5902del NP_001124450.1:p.Gln1967TrpfsTer19
NM_001130978.2:c.5899_5902del NP_001124450.1:p.Gln1967TrpfsTer19
NM_001130979.1:c.5929_5932del NP_001124451.1:p.Gln1977TrpfsTer19
NM_001130979.2:c.5929_5932del NP_001124451.1:p.Gln1977TrpfsTer19
NM_001130980.1:c.5887_5890del NP_001124452.1:p.Gln1963TrpfsTer19
NM_001130980.2:c.5887_5890del NP_001124452.1:p.Gln1963TrpfsTer19
NM_001130981.1:c.5950_5953del NP_001124453.1:p.Gln1984TrpfsTer19
NM_001130981.2:c.5950_5953del NP_001124453.1:p.Gln1984TrpfsTer19
NM_001130982.1:c.5932_5935del NP_001124454.1:p.Gln1978TrpfsTer19
NM_001130982.2:c.5932_5935del NP_001124454.1:p.Gln1978TrpfsTer19
NM_001130983.1:c.5902_5905del NP_001124455.1:p.Gln1968TrpfsTer19
NM_001130983.2:c.5902_5905del NP_001124455.1:p.Gln1968TrpfsTer19
NM_001130984.1:c.5860_5863del NP_001124456.1:p.Gln1954TrpfsTer19
NM_001130984.2:c.5860_5863del NP_001124456.1:p.Gln1954TrpfsTer19
NM_001130985.1:c.5890_5893del NP_001124457.1:p.Gln1964TrpfsTer19
NM_001130985.2:c.5890_5893del NP_001124457.1:p.Gln1964TrpfsTer19
NM_001130986.1:c.5797_5800del NP_001124458.1:p.Gln1933TrpfsTer19
NM_001130986.2:c.5797_5800del NP_001124458.1:p.Gln1933TrpfsTer19
NM_001130987.1:c.5953_5956del NP_001124459.1:p.Gln1985TrpfsTer19
NM_003494.3:c.5836_5839del NP_003485.1:p.Gln1946TrpfsTer19
ENST00000258104.7:c.5836_5839del ENSP00000258104.3:p.Gln1946TrpfsTer19
ENST00000394120.6:c.5839_5842del ENSP00000377678.2:p.Gln1947TrpfsTer19
ENST00000409366.5:c.5902_5905del ENSP00000386512.1:p.Gln1968TrpfsTer19
ENST00000409582.7:c.5950_5953del ENSP00000386547.3:p.Gln1984TrpfsTer19
ENST00000409651.5:c.5932_5935del ENSP00000386683.1:p.Gln1978TrpfsTer19
ENST00000409744.5:c.5860_5863del ENSP00000386285.1:p.Gln1954TrpfsTer19
ENST00000409762.5:c.5887_5890del ENSP00000387137.1:p.Gln1963TrpfsTer19
ENST00000410020.7:c.5953_5956del ENSP00000386881.3:p.Gln1985TrpfsTer19
ENST00000410041.1:c.5890_5893del ENSP00000386617.1:p.Gln1964TrpfsTer19
ENST00000413539.6:c.5929_5932del ENSP00000407046.2:p.Gln1977TrpfsTer19
ENST00000429174.6:c.5899_5902del ENSP00000398305.2:p.Gln1967TrpfsTer19
ENST00000479049.6:n.2721_2724del
ENST00000698057.1:c.3367_3370del ENSP00000513536.1:p.Gln1123TrpfsTer19
ENST00000698058.1:c.2584_2587del ENSP00000513537.1:p.Gln862TrpfsTer19
ENST00000698059.1:c.2692_2695del ENSP00000513538.1:p.Gln898TrpfsTer19
XM_005264584.3:c.5995_5998del XP_005264641.1:p.Gln1999TrpfsTer19
XM_005264584.4:c.5995_5998del XP_005264641.1:p.Gln1999TrpfsTer19
XM_005264585.3:c.5992_5995del XP_005264642.1:p.Gln1998TrpfsTer19
XM_005264585.5:c.5992_5995del XP_005264642.1:p.Gln1998TrpfsTer19