Canonical Allele Identifier: CA916564174

Gene: DYSF

Linked Data

• dbSNP Id: rs1558787399

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71669637del , CM000664.2:g.71669637del	GRCh38
NC_000002.11:g.71896767del , CM000664.1:g.71896767del	GRCh37
NC_000002.10:g.71750275del	NCBI36
NG_008694.1:g.221015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.3089del	ENSP00000513536.1:p.Lys1030ArgfsTer?
ENST00000698058.1:c.2306del	ENSP00000513537.1:p.Lys769ArgfsTer?
ENST00000698059.1:c.2414del	ENSP00000513538.1:p.Lys805ArgfsTer?
ENST00000258104.8:c.5558del MANE Plus Clinical	ENSP00000258104.3:p.Lys1853ArgfsTer?
ENST00000410020.8:c.5675del MANE Select	ENSP00000386881.3:p.Lys1892ArgfsTer?
ENST00000258104.7:c.5558del	ENSP00000258104.3:p.Lys1853ArgfsTer?
ENST00000394120.6:c.5561del	ENSP00000377678.2:p.Lys1854ArgfsTer?
ENST00000409366.5:c.5624del	ENSP00000386512.1:p.Lys1875ArgfsTer?
ENST00000409582.7:c.5672del	ENSP00000386547.3:p.Lys1891ArgfsTer?
ENST00000409651.5:c.5654del	ENSP00000386683.1:p.Lys1885ArgfsTer?
ENST00000409744.5:c.5582del	ENSP00000386285.1:p.Lys1861ArgfsTer?
ENST00000409762.5:c.5609del	ENSP00000387137.1:p.Lys1870ArgfsTer?
ENST00000410020.7:c.5675del	ENSP00000386881.3:p.Lys1892ArgfsTer?
ENST00000410041.1:c.5612del	ENSP00000386617.1:p.Lys1871ArgfsTer?
ENST00000413539.6:c.5651del	ENSP00000407046.2:p.Lys1884ArgfsTer?
ENST00000429174.6:c.5621del	ENSP00000398305.2:p.Lys1874ArgfsTer?
ENST00000479049.6:n.2443del
NM_001130455.1:c.5561del	NP_001123927.1:p.Lys1854ArgfsTer?
NM_001130976.1:c.5516del	NP_001124448.1:p.Lys1839ArgfsTer?
NM_001130977.1:c.5579del	NP_001124449.1:p.Lys1860ArgfsTer?
NM_001130978.1:c.5621del	NP_001124450.1:p.Lys1874ArgfsTer?
NM_001130979.1:c.5651del	NP_001124451.1:p.Lys1884ArgfsTer?
NM_001130980.1:c.5609del	NP_001124452.1:p.Lys1870ArgfsTer?
NM_001130981.1:c.5672del	NP_001124453.1:p.Lys1891ArgfsTer?
NM_001130982.1:c.5654del	NP_001124454.1:p.Lys1885ArgfsTer?
NM_001130983.1:c.5624del	NP_001124455.1:p.Lys1875ArgfsTer?
NM_001130984.1:c.5582del	NP_001124456.1:p.Lys1861ArgfsTer?
NM_001130985.1:c.5612del	NP_001124457.1:p.Lys1871ArgfsTer?
NM_001130986.1:c.5519del	NP_001124458.1:p.Lys1840ArgfsTer?
NM_001130987.1:c.5675del	NP_001124459.1:p.Lys1892ArgfsTer?
NM_003494.3:c.5558del	NP_003485.1:p.Lys1853ArgfsTer?
XM_005264584.3:c.5717del	XP_005264641.1:p.Lys1906ArgfsTer?
XM_005264585.3:c.5714del	XP_005264642.1:p.Lys1905ArgfsTer?
XM_005264584.4:c.5717del	XP_005264641.1:p.Lys1906ArgfsTer?
XM_005264585.5:c.5714del	XP_005264642.1:p.Lys1905ArgfsTer?
NM_001130987.2:c.5675del MANE Select	NP_001124459.1:p.Lys1892ArgfsTer?
NM_001130455.2:c.5561del	NP_001123927.1:p.Lys1854ArgfsTer?
NM_001130976.2:c.5516del	NP_001124448.1:p.Lys1839ArgfsTer?
NM_001130977.2:c.5579del	NP_001124449.1:p.Lys1860ArgfsTer?
NM_001130978.2:c.5621del	NP_001124450.1:p.Lys1874ArgfsTer?
NM_001130979.2:c.5651del	NP_001124451.1:p.Lys1884ArgfsTer?
NM_001130980.2:c.5609del	NP_001124452.1:p.Lys1870ArgfsTer?
NM_001130981.2:c.5672del	NP_001124453.1:p.Lys1891ArgfsTer?
NM_001130982.2:c.5654del	NP_001124454.1:p.Lys1885ArgfsTer?
NM_001130983.2:c.5624del	NP_001124455.1:p.Lys1875ArgfsTer?
NM_001130984.2:c.5582del	NP_001124456.1:p.Lys1861ArgfsTer?
NM_001130985.2:c.5612del	NP_001124457.1:p.Lys1871ArgfsTer?
NM_001130986.2:c.5519del	NP_001124458.1:p.Lys1840ArgfsTer?
NM_003494.4:c.5558del MANE Plus Clinical	NP_003485.1:p.Lys1853ArgfsTer?