Canonical Allele Identifier: CA1260124178
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71611582_71611583delinsCG , CM000664.2:g.71611582_71611583delinsCG GRCh38
NC_000002.11:g.71838712_71838713delinsCG , CM000664.1:g.71838712_71838713delinsCG GRCh37
NC_000002.10:g.71692220_71692221delinsCG NCBI36
NG_008694.1:g.162960_162961delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1591_1592delinsCG ENSP00000513536.1:p.Arg531=
ENST00000698058.1:c.808_809delinsCG ENSP00000513537.1:p.Arg270=
ENST00000698059.1:c.766_767delinsCG ENSP00000513538.1:p.Arg256=
ENST00000258104.8:c.4123_4124delinsCG MANE Plus Clinical ENSP00000258104.3:p.Arg1375=
ENST00000410020.8:c.4177_4178delinsCG MANE Select ENSP00000386881.3:p.Arg1393=
ENST00000258104.7:c.4123_4124delinsCG ENSP00000258104.3:p.Arg1375=
ENST00000394120.6:c.4126_4127delinsCG ENSP00000377678.2:p.Arg1376=
ENST00000409366.5:c.4126_4127delinsCG ENSP00000386512.1:p.Arg1376=
ENST00000409582.7:c.4174_4175delinsCG ENSP00000386547.3:p.Arg1392=
ENST00000409651.5:c.4219_4220delinsCG ENSP00000386683.1:p.Arg1407=
ENST00000409744.5:c.4084_4085delinsCG ENSP00000386285.1:p.Arg1362=
ENST00000409762.5:c.4174_4175delinsCG ENSP00000387137.1:p.Arg1392=
ENST00000410020.7:c.4177_4178delinsCG ENSP00000386881.3:p.Arg1393=
ENST00000410041.1:c.4177_4178delinsCG ENSP00000386617.1:p.Arg1393=
ENST00000413539.6:c.4216_4217delinsCG ENSP00000407046.2:p.Arg1406=
ENST00000429174.6:c.4123_4124delinsCG ENSP00000398305.2:p.Arg1375=
ENST00000468173.1:n.359_360delinsCG
ENST00000472873.5:n.507_508delinsCG
ENST00000479049.6:n.1008_1009delinsCG
ENST00000487180.5:n.342_343delinsCG
ENST00000494501.5:n.421_422delinsCG
NM_001130455.1:c.4126_4127delinsCG NP_001123927.1:p.Arg1376=
NM_001130976.1:c.4081_4082delinsCG NP_001124448.1:p.Arg1361=
NM_001130977.1:c.4081_4082delinsCG NP_001124449.1:p.Arg1361=
NM_001130978.1:c.4123_4124delinsCG NP_001124450.1:p.Arg1375=
NM_001130979.1:c.4216_4217delinsCG NP_001124451.1:p.Arg1406=
NM_001130980.1:c.4174_4175delinsCG NP_001124452.1:p.Arg1392=
NM_001130981.1:c.4174_4175delinsCG NP_001124453.1:p.Arg1392=
NM_001130982.1:c.4219_4220delinsCG NP_001124454.1:p.Arg1407=
NM_001130983.1:c.4126_4127delinsCG NP_001124455.1:p.Arg1376=
NM_001130984.1:c.4084_4085delinsCG NP_001124456.1:p.Arg1362=
NM_001130985.1:c.4177_4178delinsCG NP_001124457.1:p.Arg1393=
NM_001130986.1:c.4084_4085delinsCG NP_001124458.1:p.Arg1362=
NM_001130987.1:c.4177_4178delinsCG NP_001124459.1:p.Arg1393=
NM_003494.3:c.4123_4124delinsCG NP_003485.1:p.Arg1375=
XM_005264584.3:c.4219_4220delinsCG XP_005264641.1:p.Arg1407=
XM_005264585.3:c.4216_4217delinsCG XP_005264642.1:p.Arg1406=
XM_005264584.4:c.4219_4220delinsCG XP_005264641.1:p.Arg1407=
XM_005264585.5:c.4216_4217delinsCG XP_005264642.1:p.Arg1406=
XR_001738969.1:n.4377_4378delinsCG
NM_001130987.2:c.4177_4178delinsCG MANE Select NP_001124459.1:p.Arg1393=
NM_001130455.2:c.4126_4127delinsCG NP_001123927.1:p.Arg1376=
NM_001130976.2:c.4081_4082delinsCG NP_001124448.1:p.Arg1361=
NM_001130977.2:c.4081_4082delinsCG NP_001124449.1:p.Arg1361=
NM_001130978.2:c.4123_4124delinsCG NP_001124450.1:p.Arg1375=
NM_001130979.2:c.4216_4217delinsCG NP_001124451.1:p.Arg1406=
NM_001130980.2:c.4174_4175delinsCG NP_001124452.1:p.Arg1392=
NM_001130981.2:c.4174_4175delinsCG NP_001124453.1:p.Arg1392=
NM_001130982.2:c.4219_4220delinsCG NP_001124454.1:p.Arg1407=
NM_001130983.2:c.4126_4127delinsCG NP_001124455.1:p.Arg1376=
NM_001130984.2:c.4084_4085delinsCG NP_001124456.1:p.Arg1362=
NM_001130985.2:c.4177_4178delinsCG NP_001124457.1:p.Arg1393=
NM_001130986.2:c.4084_4085delinsCG NP_001124458.1:p.Arg1362=
NM_003494.4:c.4123_4124delinsCG MANE Plus Clinical NP_003485.1:p.Arg1375=