Canonical Allele Identifier: CA1139532924

Gene: DYSF

Linked Data

• ClinVar Variation Id: 2203094
• ClinVar RCV Id: RCV002634377

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679102_71679110del , CM000664.2:g.71679102_71679110del	GRCh38
NC_000002.11:g.71906232_71906240del , CM000664.1:g.71906232_71906240del	GRCh37
NC_000002.10:g.71759740_71759748del	NCBI36
NG_008694.1:g.230480_230488del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3344_3352del	ENSP00000513536.1:p.Thr1115_Lys1117del
ENST00000698058.1:c.2561_2569del	ENSP00000513537.1:p.Thr854_Lys856del
ENST00000698059.1:c.2669_2677del	ENSP00000513538.1:p.Thr890_Lys892del
ENST00000258104.8:c.5813_5821del MANE Plus Clinical	ENSP00000258104.3:p.Thr1938_Lys1940del
ENST00000410020.8:c.5930_5938del MANE Select	ENSP00000386881.3:p.Thr1977_Lys1979del
ENST00000258104.7:c.5813_5821del	ENSP00000258104.3:p.Thr1938_Lys1940del
ENST00000394120.6:c.5816_5824del	ENSP00000377678.2:p.Thr1939_Lys1941del
ENST00000409366.5:c.5879_5887del	ENSP00000386512.1:p.Thr1960_Lys1962del
ENST00000409582.7:c.5927_5935del	ENSP00000386547.3:p.Thr1976_Lys1978del
ENST00000409651.5:c.5909_5917del	ENSP00000386683.1:p.Thr1970_Lys1972del
ENST00000409744.5:c.5837_5845del	ENSP00000386285.1:p.Thr1946_Lys1948del
ENST00000409762.5:c.5864_5872del	ENSP00000387137.1:p.Thr1955_Lys1957del
ENST00000410020.7:c.5930_5938del	ENSP00000386881.3:p.Thr1977_Lys1979del
ENST00000410041.1:c.5867_5875del	ENSP00000386617.1:p.Thr1956_Lys1958del
ENST00000413539.6:c.5906_5914del	ENSP00000407046.2:p.Thr1969_Lys1971del
ENST00000429174.6:c.5876_5884del	ENSP00000398305.2:p.Thr1959_Lys1961del
ENST00000479049.6:n.2698_2706del
NM_001130455.1:c.5816_5824del	NP_001123927.1:p.Thr1939_Lys1941del
NM_001130976.1:c.5771_5779del	NP_001124448.1:p.Thr1924_Lys1926del
NM_001130977.1:c.5834_5842del	NP_001124449.1:p.Thr1945_Lys1947del
NM_001130978.1:c.5876_5884del	NP_001124450.1:p.Thr1959_Lys1961del
NM_001130979.1:c.5906_5914del	NP_001124451.1:p.Thr1969_Lys1971del
NM_001130980.1:c.5864_5872del	NP_001124452.1:p.Thr1955_Lys1957del
NM_001130981.1:c.5927_5935del	NP_001124453.1:p.Thr1976_Lys1978del
NM_001130982.1:c.5909_5917del	NP_001124454.1:p.Thr1970_Lys1972del
NM_001130983.1:c.5879_5887del	NP_001124455.1:p.Thr1960_Lys1962del
NM_001130984.1:c.5837_5845del	NP_001124456.1:p.Thr1946_Lys1948del
NM_001130985.1:c.5867_5875del	NP_001124457.1:p.Thr1956_Lys1958del
NM_001130986.1:c.5774_5782del	NP_001124458.1:p.Thr1925_Lys1927del
NM_001130987.1:c.5930_5938del	NP_001124459.1:p.Thr1977_Lys1979del
NM_003494.3:c.5813_5821del	NP_003485.1:p.Thr1938_Lys1940del
XM_005264584.3:c.5972_5980del	XP_005264641.1:p.Thr1991_Lys1993del
XM_005264585.3:c.5969_5977del	XP_005264642.1:p.Thr1990_Lys1992del
XM_005264584.4:c.5972_5980del	XP_005264641.1:p.Thr1991_Lys1993del
XM_005264585.5:c.5969_5977del	XP_005264642.1:p.Thr1990_Lys1992del
NM_001130987.2:c.5930_5938del MANE Select	NP_001124459.1:p.Thr1977_Lys1979del
NM_001130455.2:c.5816_5824del	NP_001123927.1:p.Thr1939_Lys1941del
NM_001130976.2:c.5771_5779del	NP_001124448.1:p.Thr1924_Lys1926del
NM_001130977.2:c.5834_5842del	NP_001124449.1:p.Thr1945_Lys1947del
NM_001130978.2:c.5876_5884del	NP_001124450.1:p.Thr1959_Lys1961del
NM_001130979.2:c.5906_5914del	NP_001124451.1:p.Thr1969_Lys1971del
NM_001130980.2:c.5864_5872del	NP_001124452.1:p.Thr1955_Lys1957del
NM_001130981.2:c.5927_5935del	NP_001124453.1:p.Thr1976_Lys1978del
NM_001130982.2:c.5909_5917del	NP_001124454.1:p.Thr1970_Lys1972del
NM_001130983.2:c.5879_5887del	NP_001124455.1:p.Thr1960_Lys1962del
NM_001130984.2:c.5837_5845del	NP_001124456.1:p.Thr1946_Lys1948del
NM_001130985.2:c.5867_5875del	NP_001124457.1:p.Thr1956_Lys1958del
NM_001130986.2:c.5774_5782del	NP_001124458.1:p.Thr1925_Lys1927del
NM_003494.4:c.5813_5821del MANE Plus Clinical	NP_003485.1:p.Thr1938_Lys1940del