Canonical Allele Identifier: CA1260160268
Gene: DYSF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71686323_71686324delinsGC , CM000664.2:g.71686323_71686324delinsGC GRCh38
NC_000002.11:g.71913453_71913454delinsGC , CM000664.1:g.71913453_71913454delinsGC GRCh37
NC_000002.10:g.71766961_71766962delinsGC NCBI36
NG_008694.1:g.237701_237702delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.3736-131_3736-130delinsGC ENSP00000513536.1:n.3736-131_3736-130delinsGC
ENST00000698058.1:c.2953-131_2953-130delinsGC ENSP00000513537.1:n.2953-131_2953-130delinsGC
ENST00000698059.1:c.3061-131_3061-130delinsGC ENSP00000513538.1:n.3061-131_3061-130delinsGC
ENST00000258104.8:c.6205-131_6205-130delinsGC MANE Plus Clinical ENSP00000258104.3:n.6205-131_6205-130delinsGC
ENST00000410020.8:c.6322-131_6322-130delinsGC MANE Select ENSP00000386881.3:n.6322-131_6322-130delinsGC
ENST00000258104.7:c.6205-131_6205-130delinsGC ENSP00000258104.3:n.6205-131_6205-130delinsGC
ENST00000394120.6:c.6208-131_6208-130delinsGC ENSP00000377678.2:n.6208-131_6208-130delinsGC
ENST00000409366.5:c.6271-131_6271-130delinsGC ENSP00000386512.1:n.6271-131_6271-130delinsGC
ENST00000409582.7:c.6319-131_6319-130delinsGC ENSP00000386547.3:n.6319-131_6319-130delinsGC
ENST00000409651.5:c.6301-131_6301-130delinsGC ENSP00000386683.1:n.6301-131_6301-130delinsGC
ENST00000409744.5:c.6229-131_6229-130delinsGC ENSP00000386285.1:n.6229-131_6229-130delinsGC
ENST00000409762.5:c.6256-131_6256-130delinsGC ENSP00000387137.1:n.6256-131_6256-130delinsGC
ENST00000410020.7:c.6322-131_6322-130delinsGC ENSP00000386881.3:n.6322-131_6322-130delinsGC
ENST00000410041.1:c.6259-131_6259-130delinsGC ENSP00000386617.1:n.6259-131_6259-130delinsGC
ENST00000413539.6:c.6298-131_6298-130delinsGC ENSP00000407046.2:n.6298-131_6298-130delinsGC
ENST00000429174.6:c.6268-131_6268-130delinsGC ENSP00000398305.2:n.6268-131_6268-130delinsGC
ENST00000479049.6:n.3090-131_3090-130delinsGC
NM_001130455.1:c.6208-131_6208-130delinsGC NP_001123927.1:n.6208-131_6208-130delinsGC
NM_001130976.1:c.6163-131_6163-130delinsGC NP_001124448.1:n.6163-131_6163-130delinsGC
NM_001130977.1:c.6226-131_6226-130delinsGC NP_001124449.1:n.6226-131_6226-130delinsGC
NM_001130978.1:c.6268-131_6268-130delinsGC NP_001124450.1:n.6268-131_6268-130delinsGC
NM_001130979.1:c.6298-131_6298-130delinsGC NP_001124451.1:n.6298-131_6298-130delinsGC
NM_001130980.1:c.6256-131_6256-130delinsGC NP_001124452.1:n.6256-131_6256-130delinsGC
NM_001130981.1:c.6319-131_6319-130delinsGC NP_001124453.1:n.6319-131_6319-130delinsGC
NM_001130982.1:c.6301-131_6301-130delinsGC NP_001124454.1:n.6301-131_6301-130delinsGC
NM_001130983.1:c.6271-131_6271-130delinsGC NP_001124455.1:n.6271-131_6271-130delinsGC
NM_001130984.1:c.6229-131_6229-130delinsGC NP_001124456.1:n.6229-131_6229-130delinsGC
NM_001130985.1:c.6259-131_6259-130delinsGC NP_001124457.1:n.6259-131_6259-130delinsGC
NM_001130986.1:c.6166-131_6166-130delinsGC NP_001124458.1:n.6166-131_6166-130delinsGC
NM_001130987.1:c.6322-131_6322-130delinsGC NP_001124459.1:n.6322-131_6322-130delinsGC
NM_003494.3:c.6205-131_6205-130delinsGC NP_003485.1:n.6205-131_6205-130delinsGC
XM_005264584.3:c.6364-131_6364-130delinsGC XP_005264641.1:n.6364-131_6364-130delinsGC
XM_005264585.3:c.6361-131_6361-130delinsGC XP_005264642.1:n.6361-131_6361-130delinsGC
XM_005264584.4:c.6364-131_6364-130delinsGC XP_005264641.1:n.6364-131_6364-130delinsGC
XM_005264585.5:c.6361-131_6361-130delinsGC XP_005264642.1:n.6361-131_6361-130delinsGC
NM_001130987.2:c.6322-131_6322-130delinsGC MANE Select NP_001124459.1:n.6322-131_6322-130delinsGC
NM_001130455.2:c.6208-131_6208-130delinsGC NP_001123927.1:n.6208-131_6208-130delinsGC
NM_001130976.2:c.6163-131_6163-130delinsGC NP_001124448.1:n.6163-131_6163-130delinsGC
NM_001130977.2:c.6226-131_6226-130delinsGC NP_001124449.1:n.6226-131_6226-130delinsGC
NM_001130978.2:c.6268-131_6268-130delinsGC NP_001124450.1:n.6268-131_6268-130delinsGC
NM_001130979.2:c.6298-131_6298-130delinsGC NP_001124451.1:n.6298-131_6298-130delinsGC
NM_001130980.2:c.6256-131_6256-130delinsGC NP_001124452.1:n.6256-131_6256-130delinsGC
NM_001130981.2:c.6319-131_6319-130delinsGC NP_001124453.1:n.6319-131_6319-130delinsGC
NM_001130982.2:c.6301-131_6301-130delinsGC NP_001124454.1:n.6301-131_6301-130delinsGC
NM_001130983.2:c.6271-131_6271-130delinsGC NP_001124455.1:n.6271-131_6271-130delinsGC
NM_001130984.2:c.6229-131_6229-130delinsGC NP_001124456.1:n.6229-131_6229-130delinsGC
NM_001130985.2:c.6259-131_6259-130delinsGC NP_001124457.1:n.6259-131_6259-130delinsGC
NM_001130986.2:c.6166-131_6166-130delinsGC NP_001124458.1:n.6166-131_6166-130delinsGC
NM_003494.4:c.6205-131_6205-130delinsGC MANE Plus Clinical NP_003485.1:n.6205-131_6205-130delinsGC
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