Canonical Allele Identifier: CA1260156834

Gene: DYSF

Linked Data

• dbSNP Id: rs2095263032
• gnomAD v4: 2-71679086-CCCAAGCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71679092_71679100del , CM000664.2:g.71679092_71679100del	GRCh38
NC_000002.11:g.71906222_71906230del , CM000664.1:g.71906222_71906230del	GRCh37
NC_000002.10:g.71759730_71759738del	NCBI36
NG_008694.1:g.230470_230478del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698057.1:c.3334_3342del	ENSP00000513536.1:p.Pro1112_Lys1114del
ENST00000698058.1:c.2551_2559del	ENSP00000513537.1:p.Pro851_Lys853del
ENST00000698059.1:c.2659_2667del	ENSP00000513538.1:p.Pro887_Lys889del
ENST00000258104.8:c.5803_5811del MANE Plus Clinical	ENSP00000258104.3:p.Pro1935_Lys1937del
ENST00000410020.8:c.5920_5928del MANE Select	ENSP00000386881.3:p.Pro1974_Lys1976del
ENST00000258104.7:c.5803_5811del	ENSP00000258104.3:p.Pro1935_Lys1937del
ENST00000394120.6:c.5806_5814del	ENSP00000377678.2:p.Pro1936_Lys1938del
ENST00000409366.5:c.5869_5877del	ENSP00000386512.1:p.Pro1957_Lys1959del
ENST00000409582.7:c.5917_5925del	ENSP00000386547.3:p.Pro1973_Lys1975del
ENST00000409651.5:c.5899_5907del	ENSP00000386683.1:p.Pro1967_Lys1969del
ENST00000409744.5:c.5827_5835del	ENSP00000386285.1:p.Pro1943_Lys1945del
ENST00000409762.5:c.5854_5862del	ENSP00000387137.1:p.Pro1952_Lys1954del
ENST00000410020.7:c.5920_5928del	ENSP00000386881.3:p.Pro1974_Lys1976del
ENST00000410041.1:c.5857_5865del	ENSP00000386617.1:p.Pro1953_Lys1955del
ENST00000413539.6:c.5896_5904del	ENSP00000407046.2:p.Pro1966_Lys1968del
ENST00000429174.6:c.5866_5874del	ENSP00000398305.2:p.Pro1956_Lys1958del
ENST00000479049.6:n.2688_2696del
NM_001130455.1:c.5806_5814del	NP_001123927.1:p.Pro1936_Lys1938del
NM_001130976.1:c.5761_5769del	NP_001124448.1:p.Pro1921_Lys1923del
NM_001130977.1:c.5824_5832del	NP_001124449.1:p.Pro1942_Lys1944del
NM_001130978.1:c.5866_5874del	NP_001124450.1:p.Pro1956_Lys1958del
NM_001130979.1:c.5896_5904del	NP_001124451.1:p.Pro1966_Lys1968del
NM_001130980.1:c.5854_5862del	NP_001124452.1:p.Pro1952_Lys1954del
NM_001130981.1:c.5917_5925del	NP_001124453.1:p.Pro1973_Lys1975del
NM_001130982.1:c.5899_5907del	NP_001124454.1:p.Pro1967_Lys1969del
NM_001130983.1:c.5869_5877del	NP_001124455.1:p.Pro1957_Lys1959del
NM_001130984.1:c.5827_5835del	NP_001124456.1:p.Pro1943_Lys1945del
NM_001130985.1:c.5857_5865del	NP_001124457.1:p.Pro1953_Lys1955del
NM_001130986.1:c.5764_5772del	NP_001124458.1:p.Pro1922_Lys1924del
NM_001130987.1:c.5920_5928del	NP_001124459.1:p.Pro1974_Lys1976del
NM_003494.3:c.5803_5811del	NP_003485.1:p.Pro1935_Lys1937del
XM_005264584.3:c.5962_5970del	XP_005264641.1:p.Pro1988_Lys1990del
XM_005264585.3:c.5959_5967del	XP_005264642.1:p.Pro1987_Lys1989del
XM_005264584.4:c.5962_5970del	XP_005264641.1:p.Pro1988_Lys1990del
XM_005264585.5:c.5959_5967del	XP_005264642.1:p.Pro1987_Lys1989del
NM_001130987.2:c.5920_5928del MANE Select	NP_001124459.1:p.Pro1974_Lys1976del
NM_001130455.2:c.5806_5814del	NP_001123927.1:p.Pro1936_Lys1938del
NM_001130976.2:c.5761_5769del	NP_001124448.1:p.Pro1921_Lys1923del
NM_001130977.2:c.5824_5832del	NP_001124449.1:p.Pro1942_Lys1944del
NM_001130978.2:c.5866_5874del	NP_001124450.1:p.Pro1956_Lys1958del
NM_001130979.2:c.5896_5904del	NP_001124451.1:p.Pro1966_Lys1968del
NM_001130980.2:c.5854_5862del	NP_001124452.1:p.Pro1952_Lys1954del
NM_001130981.2:c.5917_5925del	NP_001124453.1:p.Pro1973_Lys1975del
NM_001130982.2:c.5899_5907del	NP_001124454.1:p.Pro1967_Lys1969del
NM_001130983.2:c.5869_5877del	NP_001124455.1:p.Pro1957_Lys1959del
NM_001130984.2:c.5827_5835del	NP_001124456.1:p.Pro1943_Lys1945del
NM_001130985.2:c.5857_5865del	NP_001124457.1:p.Pro1953_Lys1955del
NM_001130986.2:c.5764_5772del	NP_001124458.1:p.Pro1922_Lys1924del
NM_003494.4:c.5803_5811del MANE Plus Clinical	NP_003485.1:p.Pro1935_Lys1937del