Canonical Allele Identifier: CA1260101954
Gene: DYSF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71566353_71566366delinsCAAAAAAAAAAAAA , CM000664.2:g.71566353_71566366delinsCAAAAAAAAAAAAA GRCh38
NC_000002.11:g.71793483_71793496delinsCAAAAAAAAAAAAA , CM000664.1:g.71793483_71793496delinsCAAAAAAAAAAAAA GRCh37
NC_000002.10:g.71646991_71647004delinsCAAAAAAAAAAAAA NCBI36
NG_008694.1:g.117731_117744delinsCAAAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000258104.8:c.2512-1598_2512-1585delinsCAAAAAAAAAAAAA MANE Plus Clinical ENSP00000258104.3:n.2512-1598_2512-1585delinsCAAAAAAAAAAAAA
ENST00000410020.8:c.2566-1598_2566-1585delinsCAAAAAAAAAAAAA MANE Select ENSP00000386881.3:n.2566-1598_2566-1585delinsCAAAAAAAAAAAAA
ENST00000258104.7:c.2512-1598_2512-1585delinsCAAAAAAAAAAAAA ENSP00000258104.3:n.2512-1598_2512-1585delinsCAAAAAAAAAAAAA
ENST00000394120.6:c.2515-1598_2515-1585delinsCAAAAAAAAAAAAA ENSP00000377678.2:n.2515-1598_2515-1585delinsCAAAAAAAAAAAAA
ENST00000409366.5:c.2515-1598_2515-1585delinsCAAAAAAAAAAAAA ENSP00000386512.1:n.2515-1598_2515-1585delinsCAAAAAAAAAAAAA
ENST00000409582.7:c.2563-1598_2563-1585delinsCAAAAAAAAAAAAA ENSP00000386547.3:n.2563-1598_2563-1585delinsCAAAAAAAAAAAAA
ENST00000409651.5:c.2608-1598_2608-1585delinsCAAAAAAAAAAAAA ENSP00000386683.1:n.2608-1598_2608-1585delinsCAAAAAAAAAAAAA
ENST00000409744.5:c.2473-1598_2473-1585delinsCAAAAAAAAAAAAA ENSP00000386285.1:n.2473-1598_2473-1585delinsCAAAAAAAAAAAAA
ENST00000409762.5:c.2563-1598_2563-1585delinsCAAAAAAAAAAAAA ENSP00000387137.1:n.2563-1598_2563-1585delinsCAAAAAAAAAAAAA
ENST00000410020.7:c.2566-1598_2566-1585delinsCAAAAAAAAAAAAA ENSP00000386881.3:n.2566-1598_2566-1585delinsCAAAAAAAAAAAAA
ENST00000410041.1:c.2566-1598_2566-1585delinsCAAAAAAAAAAAAA ENSP00000386617.1:n.2566-1598_2566-1585delinsCAAAAAAAAAAAAA
ENST00000413539.6:c.2605-1598_2605-1585delinsCAAAAAAAAAAAAA ENSP00000407046.2:n.2605-1598_2605-1585delinsCAAAAAAAAAAAAA
ENST00000429174.6:c.2512-1598_2512-1585delinsCAAAAAAAAAAAAA ENSP00000398305.2:n.2512-1598_2512-1585delinsCAAAAAAAAAAAAA
NM_001130455.1:c.2515-1598_2515-1585delinsCAAAAAAAAAAAAA NP_001123927.1:n.2515-1598_2515-1585delinsCAAAAAAAAAAAAA
NM_001130976.1:c.2470-1598_2470-1585delinsCAAAAAAAAAAAAA NP_001124448.1:n.2470-1598_2470-1585delinsCAAAAAAAAAAAAA
NM_001130977.1:c.2470-1598_2470-1585delinsCAAAAAAAAAAAAA NP_001124449.1:n.2470-1598_2470-1585delinsCAAAAAAAAAAAAA
NM_001130978.1:c.2512-1598_2512-1585delinsCAAAAAAAAAAAAA NP_001124450.1:n.2512-1598_2512-1585delinsCAAAAAAAAAAAAA
NM_001130979.1:c.2605-1598_2605-1585delinsCAAAAAAAAAAAAA NP_001124451.1:n.2605-1598_2605-1585delinsCAAAAAAAAAAAAA
NM_001130980.1:c.2563-1598_2563-1585delinsCAAAAAAAAAAAAA NP_001124452.1:n.2563-1598_2563-1585delinsCAAAAAAAAAAAAA
NM_001130981.1:c.2563-1598_2563-1585delinsCAAAAAAAAAAAAA NP_001124453.1:n.2563-1598_2563-1585delinsCAAAAAAAAAAAAA
NM_001130982.1:c.2608-1598_2608-1585delinsCAAAAAAAAAAAAA NP_001124454.1:n.2608-1598_2608-1585delinsCAAAAAAAAAAAAA
NM_001130983.1:c.2515-1598_2515-1585delinsCAAAAAAAAAAAAA NP_001124455.1:n.2515-1598_2515-1585delinsCAAAAAAAAAAAAA
NM_001130984.1:c.2473-1598_2473-1585delinsCAAAAAAAAAAAAA NP_001124456.1:n.2473-1598_2473-1585delinsCAAAAAAAAAAAAA
NM_001130985.1:c.2566-1598_2566-1585delinsCAAAAAAAAAAAAA NP_001124457.1:n.2566-1598_2566-1585delinsCAAAAAAAAAAAAA
NM_001130986.1:c.2473-1598_2473-1585delinsCAAAAAAAAAAAAA NP_001124458.1:n.2473-1598_2473-1585delinsCAAAAAAAAAAAAA
NM_001130987.1:c.2566-1598_2566-1585delinsCAAAAAAAAAAAAA NP_001124459.1:n.2566-1598_2566-1585delinsCAAAAAAAAAAAAA
NM_003494.3:c.2512-1598_2512-1585delinsCAAAAAAAAAAAAA NP_003485.1:n.2512-1598_2512-1585delinsCAAAAAAAAAAAAA
XM_005264584.3:c.2608-1598_2608-1585delinsCAAAAAAAAAAAAA XP_005264641.1:n.2608-1598_2608-1585delinsCAAAAAAAAAAAAA
XM_005264585.3:c.2605-1598_2605-1585delinsCAAAAAAAAAAAAA XP_005264642.1:n.2605-1598_2605-1585delinsCAAAAAAAAAAAAA
XM_005264584.4:c.2608-1598_2608-1585delinsCAAAAAAAAAAAAA XP_005264641.1:n.2608-1598_2608-1585delinsCAAAAAAAAAAAAA
XM_005264585.5:c.2605-1598_2605-1585delinsCAAAAAAAAAAAAA XP_005264642.1:n.2605-1598_2605-1585delinsCAAAAAAAAAAAAA
XR_001738969.1:n.2766-1598_2766-1585delinsCAAAAAAAAAAAAA
NM_001130987.2:c.2566-1598_2566-1585delinsCAAAAAAAAAAAAA MANE Select NP_001124459.1:n.2566-1598_2566-1585delinsCAAAAAAAAAAAAA
NM_001130455.2:c.2515-1598_2515-1585delinsCAAAAAAAAAAAAA NP_001123927.1:n.2515-1598_2515-1585delinsCAAAAAAAAAAAAA
NM_001130976.2:c.2470-1598_2470-1585delinsCAAAAAAAAAAAAA NP_001124448.1:n.2470-1598_2470-1585delinsCAAAAAAAAAAAAA
NM_001130977.2:c.2470-1598_2470-1585delinsCAAAAAAAAAAAAA NP_001124449.1:n.2470-1598_2470-1585delinsCAAAAAAAAAAAAA
NM_001130978.2:c.2512-1598_2512-1585delinsCAAAAAAAAAAAAA NP_001124450.1:n.2512-1598_2512-1585delinsCAAAAAAAAAAAAA
NM_001130979.2:c.2605-1598_2605-1585delinsCAAAAAAAAAAAAA NP_001124451.1:n.2605-1598_2605-1585delinsCAAAAAAAAAAAAA
NM_001130980.2:c.2563-1598_2563-1585delinsCAAAAAAAAAAAAA NP_001124452.1:n.2563-1598_2563-1585delinsCAAAAAAAAAAAAA
NM_001130981.2:c.2563-1598_2563-1585delinsCAAAAAAAAAAAAA NP_001124453.1:n.2563-1598_2563-1585delinsCAAAAAAAAAAAAA
NM_001130982.2:c.2608-1598_2608-1585delinsCAAAAAAAAAAAAA NP_001124454.1:n.2608-1598_2608-1585delinsCAAAAAAAAAAAAA
NM_001130983.2:c.2515-1598_2515-1585delinsCAAAAAAAAAAAAA NP_001124455.1:n.2515-1598_2515-1585delinsCAAAAAAAAAAAAA
NM_001130984.2:c.2473-1598_2473-1585delinsCAAAAAAAAAAAAA NP_001124456.1:n.2473-1598_2473-1585delinsCAAAAAAAAAAAAA
NM_001130985.2:c.2566-1598_2566-1585delinsCAAAAAAAAAAAAA NP_001124457.1:n.2566-1598_2566-1585delinsCAAAAAAAAAAAAA
NM_001130986.2:c.2473-1598_2473-1585delinsCAAAAAAAAAAAAA NP_001124458.1:n.2473-1598_2473-1585delinsCAAAAAAAAAAAAA
NM_003494.4:c.2512-1598_2512-1585delinsCAAAAAAAAAAAAA MANE Plus Clinical NP_003485.1:n.2512-1598_2512-1585delinsCAAAAAAAAAAAAA
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