Canonical Allele Identifier: CA1260156898
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71679236G= , CM000664.2:g.71679236G= GRCh38
NC_000002.11:g.71906366G= , CM000664.1:g.71906366G= GRCh37
NC_000002.10:g.71759874G= NCBI36
NG_008694.1:g.230614G=

Transcript Alleles

HGVS Amino-acid Change
NM_001130987.2:c.6063+1G= MANE Select NP_001124459.1:n.6063+1G=
ENST00000410020.8:c.6063+1G= MANE Select ENSP00000386881.3:n.6063+1G=
NM_003494.4:c.5946+1G= MANE Plus Clinical NP_003485.1:n.5946+1G=
ENST00000258104.8:c.5946+1G= MANE Plus Clinical ENSP00000258104.3:n.5946+1G=
NM_001130455.1:c.5949+1G= NP_001123927.1:n.5949+1G=
NM_001130455.2:c.5949+1G= NP_001123927.1:n.5949+1G=
NM_001130976.1:c.5904+1G= NP_001124448.1:n.5904+1G=
NM_001130976.2:c.5904+1G= NP_001124448.1:n.5904+1G=
NM_001130977.1:c.5967+1G= NP_001124449.1:n.5967+1G=
NM_001130977.2:c.5967+1G= NP_001124449.1:n.5967+1G=
NM_001130978.1:c.6009+1G= NP_001124450.1:n.6009+1G=
NM_001130978.2:c.6009+1G= NP_001124450.1:n.6009+1G=
NM_001130979.1:c.6039+1G= NP_001124451.1:n.6039+1G=
NM_001130979.2:c.6039+1G= NP_001124451.1:n.6039+1G=
NM_001130980.1:c.5997+1G= NP_001124452.1:n.5997+1G=
NM_001130980.2:c.5997+1G= NP_001124452.1:n.5997+1G=
NM_001130981.1:c.6060+1G= NP_001124453.1:n.6060+1G=
NM_001130981.2:c.6060+1G= NP_001124453.1:n.6060+1G=
NM_001130982.1:c.6042+1G= NP_001124454.1:n.6042+1G=
NM_001130982.2:c.6042+1G= NP_001124454.1:n.6042+1G=
NM_001130983.1:c.6012+1G= NP_001124455.1:n.6012+1G=
NM_001130983.2:c.6012+1G= NP_001124455.1:n.6012+1G=
NM_001130984.1:c.5970+1G= NP_001124456.1:n.5970+1G=
NM_001130984.2:c.5970+1G= NP_001124456.1:n.5970+1G=
NM_001130985.1:c.6000+1G= NP_001124457.1:n.6000+1G=
NM_001130985.2:c.6000+1G= NP_001124457.1:n.6000+1G=
NM_001130986.1:c.5907+1G= NP_001124458.1:n.5907+1G=
NM_001130986.2:c.5907+1G= NP_001124458.1:n.5907+1G=
NM_001130987.1:c.6063+1G= NP_001124459.1:n.6063+1G=
NM_003494.3:c.5946+1G= NP_003485.1:n.5946+1G=
ENST00000258104.7:c.5946+1G= ENSP00000258104.3:n.5946+1G=
ENST00000394120.6:c.5949+1G= ENSP00000377678.2:n.5949+1G=
ENST00000409366.5:c.6012+1G= ENSP00000386512.1:n.6012+1G=
ENST00000409582.7:c.6060+1G= ENSP00000386547.3:n.6060+1G=
ENST00000409651.5:c.6042+1G= ENSP00000386683.1:n.6042+1G=
ENST00000409744.5:c.5970+1G= ENSP00000386285.1:n.5970+1G=
ENST00000409762.5:c.5997+1G= ENSP00000387137.1:n.5997+1G=
ENST00000410020.7:c.6063+1G= ENSP00000386881.3:n.6063+1G=
ENST00000410041.1:c.6000+1G= ENSP00000386617.1:n.6000+1G=
ENST00000413539.6:c.6039+1G= ENSP00000407046.2:n.6039+1G=
ENST00000429174.6:c.6009+1G= ENSP00000398305.2:n.6009+1G=
ENST00000479049.6:n.2831+1G=
ENST00000698057.1:c.3477+1G= ENSP00000513536.1:n.3477+1G=
ENST00000698058.1:c.2694+1G= ENSP00000513537.1:n.2694+1G=
ENST00000698059.1:c.2802+1G= ENSP00000513538.1:n.2802+1G=
XM_005264584.3:c.6105+1G= XP_005264641.1:n.6105+1G=
XM_005264584.4:c.6105+1G= XP_005264641.1:n.6105+1G=
XM_005264585.3:c.6102+1G= XP_005264642.1:n.6102+1G=
XM_005264585.5:c.6102+1G= XP_005264642.1:n.6102+1G=