Canonical Allele Identifier: CA1260102146
Gene: DYSF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71566730_71566743delinsGACAGCCGAAGCGA , CM000664.2:g.71566730_71566743delinsGACAGCCGAAGCGA GRCh38
NC_000002.11:g.71793860_71793873delinsGACAGCCGAAGCGA , CM000664.1:g.71793860_71793873delinsGACAGCCGAAGCGA GRCh37
NC_000002.10:g.71647368_71647381delinsGACAGCCGAAGCGA NCBI36
NG_008694.1:g.118108_118121delinsGACAGCCGAAGCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.8:c.2512-1221_2512-1208delinsGACAGCCGAAGCGA MANE Plus Clinical ENSP00000258104.3:n.2512-1221_2512-1208delinsGACAGCCGAAGCGA
ENST00000410020.8:c.2566-1221_2566-1208delinsGACAGCCGAAGCGA MANE Select ENSP00000386881.3:n.2566-1221_2566-1208delinsGACAGCCGAAGCGA
ENST00000258104.7:c.2512-1221_2512-1208delinsGACAGCCGAAGCGA ENSP00000258104.3:n.2512-1221_2512-1208delinsGACAGCCGAAGCGA
ENST00000394120.6:c.2515-1221_2515-1208delinsGACAGCCGAAGCGA ENSP00000377678.2:n.2515-1221_2515-1208delinsGACAGCCGAAGCGA
ENST00000409366.5:c.2515-1221_2515-1208delinsGACAGCCGAAGCGA ENSP00000386512.1:n.2515-1221_2515-1208delinsGACAGCCGAAGCGA
ENST00000409582.7:c.2563-1221_2563-1208delinsGACAGCCGAAGCGA ENSP00000386547.3:n.2563-1221_2563-1208delinsGACAGCCGAAGCGA
ENST00000409651.5:c.2608-1221_2608-1208delinsGACAGCCGAAGCGA ENSP00000386683.1:n.2608-1221_2608-1208delinsGACAGCCGAAGCGA
ENST00000409744.5:c.2473-1221_2473-1208delinsGACAGCCGAAGCGA ENSP00000386285.1:n.2473-1221_2473-1208delinsGACAGCCGAAGCGA
ENST00000409762.5:c.2563-1221_2563-1208delinsGACAGCCGAAGCGA ENSP00000387137.1:n.2563-1221_2563-1208delinsGACAGCCGAAGCGA
ENST00000410020.7:c.2566-1221_2566-1208delinsGACAGCCGAAGCGA ENSP00000386881.3:n.2566-1221_2566-1208delinsGACAGCCGAAGCGA
ENST00000410041.1:c.2566-1221_2566-1208delinsGACAGCCGAAGCGA ENSP00000386617.1:n.2566-1221_2566-1208delinsGACAGCCGAAGCGA
ENST00000413539.6:c.2605-1221_2605-1208delinsGACAGCCGAAGCGA ENSP00000407046.2:n.2605-1221_2605-1208delinsGACAGCCGAAGCGA
ENST00000429174.6:c.2512-1221_2512-1208delinsGACAGCCGAAGCGA ENSP00000398305.2:n.2512-1221_2512-1208delinsGACAGCCGAAGCGA
NM_001130455.1:c.2515-1221_2515-1208delinsGACAGCCGAAGCGA NP_001123927.1:n.2515-1221_2515-1208delinsGACAGCCGAAGCGA
NM_001130976.1:c.2470-1221_2470-1208delinsGACAGCCGAAGCGA NP_001124448.1:n.2470-1221_2470-1208delinsGACAGCCGAAGCGA
NM_001130977.1:c.2470-1221_2470-1208delinsGACAGCCGAAGCGA NP_001124449.1:n.2470-1221_2470-1208delinsGACAGCCGAAGCGA
NM_001130978.1:c.2512-1221_2512-1208delinsGACAGCCGAAGCGA NP_001124450.1:n.2512-1221_2512-1208delinsGACAGCCGAAGCGA
NM_001130979.1:c.2605-1221_2605-1208delinsGACAGCCGAAGCGA NP_001124451.1:n.2605-1221_2605-1208delinsGACAGCCGAAGCGA
NM_001130980.1:c.2563-1221_2563-1208delinsGACAGCCGAAGCGA NP_001124452.1:n.2563-1221_2563-1208delinsGACAGCCGAAGCGA
NM_001130981.1:c.2563-1221_2563-1208delinsGACAGCCGAAGCGA NP_001124453.1:n.2563-1221_2563-1208delinsGACAGCCGAAGCGA
NM_001130982.1:c.2608-1221_2608-1208delinsGACAGCCGAAGCGA NP_001124454.1:n.2608-1221_2608-1208delinsGACAGCCGAAGCGA
NM_001130983.1:c.2515-1221_2515-1208delinsGACAGCCGAAGCGA NP_001124455.1:n.2515-1221_2515-1208delinsGACAGCCGAAGCGA
NM_001130984.1:c.2473-1221_2473-1208delinsGACAGCCGAAGCGA NP_001124456.1:n.2473-1221_2473-1208delinsGACAGCCGAAGCGA
NM_001130985.1:c.2566-1221_2566-1208delinsGACAGCCGAAGCGA NP_001124457.1:n.2566-1221_2566-1208delinsGACAGCCGAAGCGA
NM_001130986.1:c.2473-1221_2473-1208delinsGACAGCCGAAGCGA NP_001124458.1:n.2473-1221_2473-1208delinsGACAGCCGAAGCGA
NM_001130987.1:c.2566-1221_2566-1208delinsGACAGCCGAAGCGA NP_001124459.1:n.2566-1221_2566-1208delinsGACAGCCGAAGCGA
NM_003494.3:c.2512-1221_2512-1208delinsGACAGCCGAAGCGA NP_003485.1:n.2512-1221_2512-1208delinsGACAGCCGAAGCGA
XM_005264584.3:c.2608-1221_2608-1208delinsGACAGCCGAAGCGA XP_005264641.1:n.2608-1221_2608-1208delinsGACAGCCGAAGCGA
XM_005264585.3:c.2605-1221_2605-1208delinsGACAGCCGAAGCGA XP_005264642.1:n.2605-1221_2605-1208delinsGACAGCCGAAGCGA
XM_005264584.4:c.2608-1221_2608-1208delinsGACAGCCGAAGCGA XP_005264641.1:n.2608-1221_2608-1208delinsGACAGCCGAAGCGA
XM_005264585.5:c.2605-1221_2605-1208delinsGACAGCCGAAGCGA XP_005264642.1:n.2605-1221_2605-1208delinsGACAGCCGAAGCGA
XR_001738969.1:n.2766-1221_2766-1208delinsGACAGCCGAAGCGA
NM_001130987.2:c.2566-1221_2566-1208delinsGACAGCCGAAGCGA MANE Select NP_001124459.1:n.2566-1221_2566-1208delinsGACAGCCGAAGCGA
NM_001130455.2:c.2515-1221_2515-1208delinsGACAGCCGAAGCGA NP_001123927.1:n.2515-1221_2515-1208delinsGACAGCCGAAGCGA
NM_001130976.2:c.2470-1221_2470-1208delinsGACAGCCGAAGCGA NP_001124448.1:n.2470-1221_2470-1208delinsGACAGCCGAAGCGA
NM_001130977.2:c.2470-1221_2470-1208delinsGACAGCCGAAGCGA NP_001124449.1:n.2470-1221_2470-1208delinsGACAGCCGAAGCGA
NM_001130978.2:c.2512-1221_2512-1208delinsGACAGCCGAAGCGA NP_001124450.1:n.2512-1221_2512-1208delinsGACAGCCGAAGCGA
NM_001130979.2:c.2605-1221_2605-1208delinsGACAGCCGAAGCGA NP_001124451.1:n.2605-1221_2605-1208delinsGACAGCCGAAGCGA
NM_001130980.2:c.2563-1221_2563-1208delinsGACAGCCGAAGCGA NP_001124452.1:n.2563-1221_2563-1208delinsGACAGCCGAAGCGA
NM_001130981.2:c.2563-1221_2563-1208delinsGACAGCCGAAGCGA NP_001124453.1:n.2563-1221_2563-1208delinsGACAGCCGAAGCGA
NM_001130982.2:c.2608-1221_2608-1208delinsGACAGCCGAAGCGA NP_001124454.1:n.2608-1221_2608-1208delinsGACAGCCGAAGCGA
NM_001130983.2:c.2515-1221_2515-1208delinsGACAGCCGAAGCGA NP_001124455.1:n.2515-1221_2515-1208delinsGACAGCCGAAGCGA
NM_001130984.2:c.2473-1221_2473-1208delinsGACAGCCGAAGCGA NP_001124456.1:n.2473-1221_2473-1208delinsGACAGCCGAAGCGA
NM_001130985.2:c.2566-1221_2566-1208delinsGACAGCCGAAGCGA NP_001124457.1:n.2566-1221_2566-1208delinsGACAGCCGAAGCGA
NM_001130986.2:c.2473-1221_2473-1208delinsGACAGCCGAAGCGA NP_001124458.1:n.2473-1221_2473-1208delinsGACAGCCGAAGCGA
NM_003494.4:c.2512-1221_2512-1208delinsGACAGCCGAAGCGA MANE Plus Clinical NP_003485.1:n.2512-1221_2512-1208delinsGACAGCCGAAGCGA