Canonical Allele Identifier: CA2659552607
Gene: DYSF HGNC NCBI

Linked Data

gnomAD v4: 2-71602877-A-ACCTGGAGCCTTCCAGGTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71602883_71602900dup , CM000664.2:g.71602883_71602900dup GRCh38
NC_000002.11:g.71830013_71830030dup , CM000664.1:g.71830013_71830030dup GRCh37
NC_000002.10:g.71683521_71683538dup NCBI36
NG_008694.1:g.154261_154278dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698057.1:c.1329+78_1329+95dup ENSP00000513536.1:n.1329+78_1329+95dup
ENST00000698058.1:c.546+78_546+95dup ENSP00000513537.1:n.546+78_546+95dup
ENST00000698059.1:c.546+78_546+95dup ENSP00000513538.1:n.546+78_546+95dup
ENST00000258104.8:c.3903+78_3903+95dup MANE Plus Clinical ENSP00000258104.3:n.3903+78_3903+95dup
ENST00000410020.8:c.3957+78_3957+95dup MANE Select ENSP00000386881.3:n.3957+78_3957+95dup
ENST00000258104.7:c.3903+78_3903+95dup ENSP00000258104.3:n.3903+78_3903+95dup
ENST00000394120.6:c.3906+78_3906+95dup ENSP00000377678.2:n.3906+78_3906+95dup
ENST00000409366.5:c.3906+78_3906+95dup ENSP00000386512.1:n.3906+78_3906+95dup
ENST00000409582.7:c.3954+78_3954+95dup ENSP00000386547.3:n.3954+78_3954+95dup
ENST00000409651.5:c.3999+78_3999+95dup ENSP00000386683.1:n.3999+78_3999+95dup
ENST00000409744.5:c.3864+78_3864+95dup ENSP00000386285.1:n.3864+78_3864+95dup
ENST00000409762.5:c.3954+78_3954+95dup ENSP00000387137.1:n.3954+78_3954+95dup
ENST00000410020.7:c.3957+78_3957+95dup ENSP00000386881.3:n.3957+78_3957+95dup
ENST00000410041.1:c.3957+78_3957+95dup ENSP00000386617.1:n.3957+78_3957+95dup
ENST00000413539.6:c.3996+78_3996+95dup ENSP00000407046.2:n.3996+78_3996+95dup
ENST00000429174.6:c.3903+78_3903+95dup ENSP00000398305.2:n.3903+78_3903+95dup
ENST00000472873.5:n.287+78_287+95dup
ENST00000479049.6:n.788+78_788+95dup
ENST00000487180.5:n.122+78_122+95dup
ENST00000494501.5:n.263+78_263+95dup
NM_001130455.1:c.3906+78_3906+95dup NP_001123927.1:n.3906+78_3906+95dup
NM_001130976.1:c.3861+78_3861+95dup NP_001124448.1:n.3861+78_3861+95dup
NM_001130977.1:c.3861+78_3861+95dup NP_001124449.1:n.3861+78_3861+95dup
NM_001130978.1:c.3903+78_3903+95dup NP_001124450.1:n.3903+78_3903+95dup
NM_001130979.1:c.3996+78_3996+95dup NP_001124451.1:n.3996+78_3996+95dup
NM_001130980.1:c.3954+78_3954+95dup NP_001124452.1:n.3954+78_3954+95dup
NM_001130981.1:c.3954+78_3954+95dup NP_001124453.1:n.3954+78_3954+95dup
NM_001130982.1:c.3999+78_3999+95dup NP_001124454.1:n.3999+78_3999+95dup
NM_001130983.1:c.3906+78_3906+95dup NP_001124455.1:n.3906+78_3906+95dup
NM_001130984.1:c.3864+78_3864+95dup NP_001124456.1:n.3864+78_3864+95dup
NM_001130985.1:c.3957+78_3957+95dup NP_001124457.1:n.3957+78_3957+95dup
NM_001130986.1:c.3864+78_3864+95dup NP_001124458.1:n.3864+78_3864+95dup
NM_001130987.1:c.3957+78_3957+95dup NP_001124459.1:n.3957+78_3957+95dup
NM_003494.3:c.3903+78_3903+95dup NP_003485.1:n.3903+78_3903+95dup
XM_005264584.3:c.3999+78_3999+95dup XP_005264641.1:n.3999+78_3999+95dup
XM_005264585.3:c.3996+78_3996+95dup XP_005264642.1:n.3996+78_3996+95dup
XM_005264584.4:c.3999+78_3999+95dup XP_005264641.1:n.3999+78_3999+95dup
XM_005264585.5:c.3996+78_3996+95dup XP_005264642.1:n.3996+78_3996+95dup
XR_001738969.1:n.4157+78_4157+95dup
NM_001130987.2:c.3957+78_3957+95dup MANE Select NP_001124459.1:n.3957+78_3957+95dup
NM_001130455.2:c.3906+78_3906+95dup NP_001123927.1:n.3906+78_3906+95dup
NM_001130976.2:c.3861+78_3861+95dup NP_001124448.1:n.3861+78_3861+95dup
NM_001130977.2:c.3861+78_3861+95dup NP_001124449.1:n.3861+78_3861+95dup
NM_001130978.2:c.3903+78_3903+95dup NP_001124450.1:n.3903+78_3903+95dup
NM_001130979.2:c.3996+78_3996+95dup NP_001124451.1:n.3996+78_3996+95dup
NM_001130980.2:c.3954+78_3954+95dup NP_001124452.1:n.3954+78_3954+95dup
NM_001130981.2:c.3954+78_3954+95dup NP_001124453.1:n.3954+78_3954+95dup
NM_001130982.2:c.3999+78_3999+95dup NP_001124454.1:n.3999+78_3999+95dup
NM_001130983.2:c.3906+78_3906+95dup NP_001124455.1:n.3906+78_3906+95dup
NM_001130984.2:c.3864+78_3864+95dup NP_001124456.1:n.3864+78_3864+95dup
NM_001130985.2:c.3957+78_3957+95dup NP_001124457.1:n.3957+78_3957+95dup
NM_001130986.2:c.3864+78_3864+95dup NP_001124458.1:n.3864+78_3864+95dup
NM_003494.4:c.3903+78_3903+95dup MANE Plus Clinical NP_003485.1:n.3903+78_3903+95dup
Search 100 bp 5'
Search 100 bp 3'