Canonical Allele Identifier: CA1706805

Gene: DYSF

Linked Data

• dbSNP Id: rs771210706
• ExAC: 2:71829934 AG / A
• gnomAD v2: 2-71829934-AG-A
• gnomAD v3: 2-71602804-AG-A
• gnomAD v4: 2-71602804-AG-A
• MyVariant Identifiers: chr2:g.71829935del (hg19) ; chr2:g.71602805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71602806del , CM000664.2:g.71602806del	GRCh38
NC_000002.11:g.71829936del , CM000664.1:g.71829936del	GRCh37
NC_000002.10:g.71683444del	NCBI36
NG_008694.1:g.154184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698057.1:c.1329+1del
ENST00000698058.1:c.546+1del
ENST00000698059.1:c.546+1del
ENST00000258104.8:c.3903+1del
ENST00000410020.8:c.3957+1del
ENST00000258104.7:c.3903+1del
ENST00000394120.6:c.3906+1del
ENST00000409366.5:c.3906+1del
ENST00000409582.7:c.3954+1del
ENST00000409651.5:c.3999+1del
ENST00000409744.5:c.3864+1del
ENST00000409762.5:c.3954+1del
ENST00000410020.7:c.3957+1del
ENST00000410041.1:c.3957+1del
ENST00000413539.6:c.3996+1del
ENST00000429174.6:c.3903+1del
ENST00000472873.5:n.287+1del
ENST00000479049.6:n.788+1del
ENST00000487180.5:n.122+1del
ENST00000494501.5:n.263+1del
NM_001130455.1:c.3906+1del
NM_001130976.1:c.3861+1del
NM_001130977.1:c.3861+1del
NM_001130978.1:c.3903+1del
NM_001130979.1:c.3996+1del
NM_001130980.1:c.3954+1del
NM_001130981.1:c.3954+1del
NM_001130982.1:c.3999+1del
NM_001130983.1:c.3906+1del
NM_001130984.1:c.3864+1del
NM_001130985.1:c.3957+1del
NM_001130986.1:c.3864+1del
NM_001130987.1:c.3957+1del
NM_003494.3:c.3903+1del
XM_005264584.3:c.3999+1del
XM_005264585.3:c.3996+1del
XM_005264584.4:c.3999+1del
XM_005264585.5:c.3996+1del
XR_001738969.1:n.4157+1del
NM_001130987.2:c.3957+1del
NM_001130455.2:c.3906+1del
NM_001130976.2:c.3861+1del
NM_001130977.2:c.3861+1del
NM_001130978.2:c.3903+1del
NM_001130979.2:c.3996+1del
NM_001130980.2:c.3954+1del
NM_001130981.2:c.3954+1del
NM_001130982.2:c.3999+1del
NM_001130983.2:c.3906+1del
NM_001130984.2:c.3864+1del
NM_001130985.2:c.3957+1del
NM_001130986.2:c.3864+1del
NM_003494.4:c.3903+1del