Canonical Allele Identifier: CA2739271024
Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 2907302
ClinVar RCV Id: RCV003737350

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71570748_71570763dup , CM000664.2:g.71570748_71570763dup GRCh38
NC_000002.11:g.71797878_71797893dup , CM000664.1:g.71797878_71797893dup GRCh37
NC_000002.10:g.71651386_71651401dup NCBI36
NG_008694.1:g.122126_122141dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.600+7_600+22dup ENSP00000513536.1:n.600+7_600+22dup
ENST00000258104.8:c.3174+7_3174+22dup MANE Plus Clinical ENSP00000258104.3:n.3174+7_3174+22dup
ENST00000410020.8:c.3228+7_3228+22dup MANE Select ENSP00000386881.3:n.3228+7_3228+22dup
ENST00000258104.7:c.3174+7_3174+22dup ENSP00000258104.3:n.3174+7_3174+22dup
ENST00000394120.6:c.3177+7_3177+22dup ENSP00000377678.2:n.3177+7_3177+22dup
ENST00000409366.5:c.3177+7_3177+22dup ENSP00000386512.1:n.3177+7_3177+22dup
ENST00000409582.7:c.3225+7_3225+22dup ENSP00000386547.3:n.3225+7_3225+22dup
ENST00000409651.5:c.3270+7_3270+22dup ENSP00000386683.1:n.3270+7_3270+22dup
ENST00000409744.5:c.3135+7_3135+22dup ENSP00000386285.1:n.3135+7_3135+22dup
ENST00000409762.5:c.3225+7_3225+22dup ENSP00000387137.1:n.3225+7_3225+22dup
ENST00000410020.7:c.3228+7_3228+22dup ENSP00000386881.3:n.3228+7_3228+22dup
ENST00000410041.1:c.3228+7_3228+22dup ENSP00000386617.1:n.3228+7_3228+22dup
ENST00000413539.6:c.3267+7_3267+22dup ENSP00000407046.2:n.3267+7_3267+22dup
ENST00000429174.6:c.3174+7_3174+22dup ENSP00000398305.2:n.3174+7_3174+22dup
ENST00000461565.1:n.347_362dup
NM_001130455.1:c.3177+7_3177+22dup NP_001123927.1:n.3177+7_3177+22dup
NM_001130976.1:c.3132+7_3132+22dup NP_001124448.1:n.3132+7_3132+22dup
NM_001130977.1:c.3132+7_3132+22dup NP_001124449.1:n.3132+7_3132+22dup
NM_001130978.1:c.3174+7_3174+22dup NP_001124450.1:n.3174+7_3174+22dup
NM_001130979.1:c.3267+7_3267+22dup NP_001124451.1:n.3267+7_3267+22dup
NM_001130980.1:c.3225+7_3225+22dup NP_001124452.1:n.3225+7_3225+22dup
NM_001130981.1:c.3225+7_3225+22dup NP_001124453.1:n.3225+7_3225+22dup
NM_001130982.1:c.3270+7_3270+22dup NP_001124454.1:n.3270+7_3270+22dup
NM_001130983.1:c.3177+7_3177+22dup NP_001124455.1:n.3177+7_3177+22dup
NM_001130984.1:c.3135+7_3135+22dup NP_001124456.1:n.3135+7_3135+22dup
NM_001130985.1:c.3228+7_3228+22dup NP_001124457.1:n.3228+7_3228+22dup
NM_001130986.1:c.3135+7_3135+22dup NP_001124458.1:n.3135+7_3135+22dup
NM_001130987.1:c.3228+7_3228+22dup NP_001124459.1:n.3228+7_3228+22dup
NM_003494.3:c.3174+7_3174+22dup NP_003485.1:n.3174+7_3174+22dup
XM_005264584.3:c.3270+7_3270+22dup XP_005264641.1:n.3270+7_3270+22dup
XM_005264585.3:c.3267+7_3267+22dup XP_005264642.1:n.3267+7_3267+22dup
XM_005264584.4:c.3270+7_3270+22dup XP_005264641.1:n.3270+7_3270+22dup
XM_005264585.5:c.3267+7_3267+22dup XP_005264642.1:n.3267+7_3267+22dup
XR_001738969.1:n.3428+7_3428+22dup
NM_001130987.2:c.3228+7_3228+22dup MANE Select NP_001124459.1:n.3228+7_3228+22dup
NM_001130455.2:c.3177+7_3177+22dup NP_001123927.1:n.3177+7_3177+22dup
NM_001130976.2:c.3132+7_3132+22dup NP_001124448.1:n.3132+7_3132+22dup
NM_001130977.2:c.3132+7_3132+22dup NP_001124449.1:n.3132+7_3132+22dup
NM_001130978.2:c.3174+7_3174+22dup NP_001124450.1:n.3174+7_3174+22dup
NM_001130979.2:c.3267+7_3267+22dup NP_001124451.1:n.3267+7_3267+22dup
NM_001130980.2:c.3225+7_3225+22dup NP_001124452.1:n.3225+7_3225+22dup
NM_001130981.2:c.3225+7_3225+22dup NP_001124453.1:n.3225+7_3225+22dup
NM_001130982.2:c.3270+7_3270+22dup NP_001124454.1:n.3270+7_3270+22dup
NM_001130983.2:c.3177+7_3177+22dup NP_001124455.1:n.3177+7_3177+22dup
NM_001130984.2:c.3135+7_3135+22dup NP_001124456.1:n.3135+7_3135+22dup
NM_001130985.2:c.3228+7_3228+22dup NP_001124457.1:n.3228+7_3228+22dup
NM_001130986.2:c.3135+7_3135+22dup NP_001124458.1:n.3135+7_3135+22dup
NM_003494.4:c.3174+7_3174+22dup MANE Plus Clinical NP_003485.1:n.3174+7_3174+22dup