Canonical Allele Identifier: CA2750415619
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71570889_71570945del , CM000664.2:g.71570889_71570945del GRCh38
NC_000002.11:g.71798019_71798075del , CM000664.1:g.71798019_71798075del GRCh37
NC_000002.10:g.71651527_71651583del NCBI36
NG_008694.1:g.122267_122323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.600+148_600+204del ENSP00000513536.1:n.600+148_600+204del
ENST00000258104.8:c.3174+148_3174+204del MANE Plus Clinical ENSP00000258104.3:n.3174+148_3174+204del
ENST00000410020.8:c.3228+148_3228+204del MANE Select ENSP00000386881.3:n.3228+148_3228+204del
ENST00000258104.7:c.3174+148_3174+204del ENSP00000258104.3:n.3174+148_3174+204del
ENST00000394120.6:c.3177+148_3177+204del ENSP00000377678.2:n.3177+148_3177+204del
ENST00000409366.5:c.3177+148_3177+204del ENSP00000386512.1:n.3177+148_3177+204del
ENST00000409582.7:c.3225+148_3225+204del ENSP00000386547.3:n.3225+148_3225+204del
ENST00000409651.5:c.3270+148_3270+204del ENSP00000386683.1:n.3270+148_3270+204del
ENST00000409744.5:c.3135+148_3135+204del ENSP00000386285.1:n.3135+148_3135+204del
ENST00000409762.5:c.3225+148_3225+204del ENSP00000387137.1:n.3225+148_3225+204del
ENST00000410020.7:c.3228+148_3228+204del ENSP00000386881.3:n.3228+148_3228+204del
ENST00000410041.1:c.3228+148_3228+204del ENSP00000386617.1:n.3228+148_3228+204del
ENST00000413539.6:c.3267+148_3267+204del ENSP00000407046.2:n.3267+148_3267+204del
ENST00000429174.6:c.3174+148_3174+204del ENSP00000398305.2:n.3174+148_3174+204del
NM_001130455.1:c.3177+148_3177+204del NP_001123927.1:n.3177+148_3177+204del
NM_001130976.1:c.3132+148_3132+204del NP_001124448.1:n.3132+148_3132+204del
NM_001130977.1:c.3132+148_3132+204del NP_001124449.1:n.3132+148_3132+204del
NM_001130978.1:c.3174+148_3174+204del NP_001124450.1:n.3174+148_3174+204del
NM_001130979.1:c.3267+148_3267+204del NP_001124451.1:n.3267+148_3267+204del
NM_001130980.1:c.3225+148_3225+204del NP_001124452.1:n.3225+148_3225+204del
NM_001130981.1:c.3225+148_3225+204del NP_001124453.1:n.3225+148_3225+204del
NM_001130982.1:c.3270+148_3270+204del NP_001124454.1:n.3270+148_3270+204del
NM_001130983.1:c.3177+148_3177+204del NP_001124455.1:n.3177+148_3177+204del
NM_001130984.1:c.3135+148_3135+204del NP_001124456.1:n.3135+148_3135+204del
NM_001130985.1:c.3228+148_3228+204del NP_001124457.1:n.3228+148_3228+204del
NM_001130986.1:c.3135+148_3135+204del NP_001124458.1:n.3135+148_3135+204del
NM_001130987.1:c.3228+148_3228+204del NP_001124459.1:n.3228+148_3228+204del
NM_003494.3:c.3174+148_3174+204del NP_003485.1:n.3174+148_3174+204del
XM_005264584.3:c.3270+148_3270+204del XP_005264641.1:n.3270+148_3270+204del
XM_005264585.3:c.3267+148_3267+204del XP_005264642.1:n.3267+148_3267+204del
XM_005264584.4:c.3270+148_3270+204del XP_005264641.1:n.3270+148_3270+204del
XM_005264585.5:c.3267+148_3267+204del XP_005264642.1:n.3267+148_3267+204del
XR_001738969.1:n.3428+148_3428+204del
NM_001130987.2:c.3228+148_3228+204del MANE Select NP_001124459.1:n.3228+148_3228+204del
NM_001130455.2:c.3177+148_3177+204del NP_001123927.1:n.3177+148_3177+204del
NM_001130976.2:c.3132+148_3132+204del NP_001124448.1:n.3132+148_3132+204del
NM_001130977.2:c.3132+148_3132+204del NP_001124449.1:n.3132+148_3132+204del
NM_001130978.2:c.3174+148_3174+204del NP_001124450.1:n.3174+148_3174+204del
NM_001130979.2:c.3267+148_3267+204del NP_001124451.1:n.3267+148_3267+204del
NM_001130980.2:c.3225+148_3225+204del NP_001124452.1:n.3225+148_3225+204del
NM_001130981.2:c.3225+148_3225+204del NP_001124453.1:n.3225+148_3225+204del
NM_001130982.2:c.3270+148_3270+204del NP_001124454.1:n.3270+148_3270+204del
NM_001130983.2:c.3177+148_3177+204del NP_001124455.1:n.3177+148_3177+204del
NM_001130984.2:c.3135+148_3135+204del NP_001124456.1:n.3135+148_3135+204del
NM_001130985.2:c.3228+148_3228+204del NP_001124457.1:n.3228+148_3228+204del
NM_001130986.2:c.3135+148_3135+204del NP_001124458.1:n.3135+148_3135+204del
NM_003494.4:c.3174+148_3174+204del MANE Plus Clinical NP_003485.1:n.3174+148_3174+204del