Canonical Allele Identifier: CA2573052014
Community Standard Title: NM_001130987.2(DYSF):c.4726del (p.Glu1576LysfsTer5)
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71656261del , CM000664.2:g.71656261del GRCh38
NC_000002.11:g.71883391del , CM000664.1:g.71883391del GRCh37
NC_000002.10:g.71736899del NCBI36
NG_008694.1:g.207639del

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.4726del MANE Select NP_001124459.1:p.Glu1576LysfsTer5
ENST00000410020.8:c.4726del MANE Select ENSP00000386881.3:p.Glu1576LysfsTer5
NM_003494.4:c.4609del MANE Plus Clinical NP_003485.1:p.Glu1537LysfsTer5
ENST00000258104.8:c.4609del MANE Plus Clinical ENSP00000258104.3:p.Glu1537LysfsTer5
NM_001130455.1:c.4612del NP_001123927.1:p.Glu1538LysfsTer5
NM_001130455.2:c.4612del NP_001123927.1:p.Glu1538LysfsTer5
NM_001130976.1:c.4567del NP_001124448.1:p.Glu1523LysfsTer5
NM_001130976.2:c.4567del NP_001124448.1:p.Glu1523LysfsTer5
NM_001130977.1:c.4630del NP_001124449.1:p.Glu1544LysfsTer5
NM_001130977.2:c.4630del NP_001124449.1:p.Glu1544LysfsTer5
NM_001130978.1:c.4672del NP_001124450.1:p.Glu1558LysfsTer5
NM_001130978.2:c.4672del NP_001124450.1:p.Glu1558LysfsTer5
NM_001130979.1:c.4702del NP_001124451.1:p.Glu1568LysfsTer5
NM_001130979.2:c.4702del NP_001124451.1:p.Glu1568LysfsTer5
NM_001130980.1:c.4660del NP_001124452.1:p.Glu1554LysfsTer5
NM_001130980.2:c.4660del NP_001124452.1:p.Glu1554LysfsTer5
NM_001130981.1:c.4723del NP_001124453.1:p.Glu1575LysfsTer5
NM_001130981.2:c.4723del NP_001124453.1:p.Glu1575LysfsTer5
NM_001130982.1:c.4705del NP_001124454.1:p.Glu1569LysfsTer5
NM_001130982.2:c.4705del NP_001124454.1:p.Glu1569LysfsTer5
NM_001130983.1:c.4675del NP_001124455.1:p.Glu1559LysfsTer5
NM_001130983.2:c.4675del NP_001124455.1:p.Glu1559LysfsTer5
NM_001130984.1:c.4633del NP_001124456.1:p.Glu1545LysfsTer5
NM_001130984.2:c.4633del NP_001124456.1:p.Glu1545LysfsTer5
NM_001130985.1:c.4663del NP_001124457.1:p.Glu1555LysfsTer5
NM_001130985.2:c.4663del NP_001124457.1:p.Glu1555LysfsTer5
NM_001130986.1:c.4570del NP_001124458.1:p.Glu1524LysfsTer5
NM_001130986.2:c.4570del NP_001124458.1:p.Glu1524LysfsTer5
NM_001130987.1:c.4726del NP_001124459.1:p.Glu1576LysfsTer5
NM_003494.3:c.4609del NP_003485.1:p.Glu1537LysfsTer5
ENST00000258104.7:c.4609del ENSP00000258104.3:p.Glu1537LysfsTer5
ENST00000394120.6:c.4612del ENSP00000377678.2:p.Glu1538LysfsTer5
ENST00000409366.5:c.4675del ENSP00000386512.1:p.Glu1559LysfsTer5
ENST00000409582.7:c.4723del ENSP00000386547.3:p.Glu1575LysfsTer5
ENST00000409651.5:c.4705del ENSP00000386683.1:p.Glu1569LysfsTer5
ENST00000409744.5:c.4633del ENSP00000386285.1:p.Glu1545LysfsTer5
ENST00000409762.5:c.4660del ENSP00000387137.1:p.Glu1554LysfsTer5
ENST00000410020.7:c.4726del ENSP00000386881.3:p.Glu1576LysfsTer5
ENST00000410041.1:c.4663del ENSP00000386617.1:p.Glu1555LysfsTer5
ENST00000413539.6:c.4702del ENSP00000407046.2:p.Glu1568LysfsTer5
ENST00000429174.6:c.4672del ENSP00000398305.2:p.Glu1558LysfsTer5
ENST00000479049.6:n.1494del
ENST00000698057.1:c.2140del ENSP00000513536.1:p.Glu714LysfsTer5
ENST00000698058.1:c.1357del ENSP00000513537.1:p.Glu453LysfsTer5
ENST00000698059.1:c.1465del ENSP00000513538.1:p.Glu489LysfsTer5
XM_005264584.3:c.4768del XP_005264641.1:p.Glu1590LysfsTer5
XM_005264584.4:c.4768del XP_005264641.1:p.Glu1590LysfsTer5
XM_005264585.3:c.4765del XP_005264642.1:p.Glu1589LysfsTer5
XM_005264585.5:c.4765del XP_005264642.1:p.Glu1589LysfsTer5
XR_001738969.1:n.4926del