Canonical Allele Identifier: CA49750752

Gene: DYSF

Linked Data

• ClinVar Variation Id: 1260886
• ClinVar RCV Id: RCV001669703
• dbSNP Id: rs56102566
• gnomAD v2: 2-71708825-T-TATCC
• gnomAD v3: 2-71481695-T-TATCC
• gnomAD v4: 2-71481695-T-TATCC
• MyVariant Identifiers: chr2:g.71708859_71708860insCCAT (hg19) ; chr2:g.71708825_71708826insATCC (hg19) ; chr2:g.71481729_71481730insCCAT (hg38) ; chr2:g.71481695_71481696insATCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71481726_71481729dup , CM000664.2:g.71481726_71481729dup	GRCh38
NC_000002.11:g.71708856_71708859dup , CM000664.1:g.71708856_71708859dup	GRCh37
NC_000002.10:g.71562364_71562367dup	NCBI36
NG_008694.1:g.33104_33107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.145-153_145-150dup MANE Plus Clinical	ENSP00000258104.3:n.145-153_145-150dup
ENST00000410020.8:c.148-153_148-150dup MANE Select	ENSP00000386881.3:n.148-153_148-150dup
ENST00000258104.7:c.145-153_145-150dup	ENSP00000258104.3:n.145-153_145-150dup
ENST00000394120.6:c.148-153_148-150dup	ENSP00000377678.2:n.148-153_148-150dup
ENST00000409366.5:c.148-153_148-150dup	ENSP00000386512.1:n.148-153_148-150dup
ENST00000409582.7:c.145-153_145-150dup	ENSP00000386547.3:n.145-153_145-150dup
ENST00000409651.5:c.148-153_148-150dup	ENSP00000386683.1:n.148-153_148-150dup
ENST00000409744.5:c.148-153_148-150dup	ENSP00000386285.1:n.148-153_148-150dup
ENST00000409762.5:c.145-153_145-150dup	ENSP00000387137.1:n.145-153_145-150dup
ENST00000410020.7:c.148-153_148-150dup	ENSP00000386881.3:n.148-153_148-150dup
ENST00000410041.1:c.148-153_148-150dup	ENSP00000386617.1:n.148-153_148-150dup
ENST00000413539.6:c.145-153_145-150dup	ENSP00000407046.2:n.145-153_145-150dup
ENST00000429174.6:c.145-153_145-150dup	ENSP00000398305.2:n.145-153_145-150dup
NM_001130455.1:c.148-153_148-150dup	NP_001123927.1:n.148-153_148-150dup
NM_001130976.1:c.145-153_145-150dup	NP_001124448.1:n.145-153_145-150dup
NM_001130977.1:c.145-153_145-150dup	NP_001124449.1:n.145-153_145-150dup
NM_001130978.1:c.145-153_145-150dup	NP_001124450.1:n.145-153_145-150dup
NM_001130979.1:c.145-153_145-150dup	NP_001124451.1:n.145-153_145-150dup
NM_001130980.1:c.145-153_145-150dup	NP_001124452.1:n.145-153_145-150dup
NM_001130981.1:c.145-153_145-150dup	NP_001124453.1:n.145-153_145-150dup
NM_001130982.1:c.148-153_148-150dup	NP_001124454.1:n.148-153_148-150dup
NM_001130983.1:c.148-153_148-150dup	NP_001124455.1:n.148-153_148-150dup
NM_001130984.1:c.148-153_148-150dup	NP_001124456.1:n.148-153_148-150dup
NM_001130985.1:c.148-153_148-150dup	NP_001124457.1:n.148-153_148-150dup
NM_001130986.1:c.148-153_148-150dup	NP_001124458.1:n.148-153_148-150dup
NM_001130987.1:c.148-153_148-150dup	NP_001124459.1:n.148-153_148-150dup
NM_003494.3:c.145-153_145-150dup	NP_003485.1:n.145-153_145-150dup
XM_005264584.3:c.148-153_148-150dup	XP_005264641.1:n.148-153_148-150dup
XM_005264585.3:c.145-153_145-150dup	XP_005264642.1:n.145-153_145-150dup
XM_005264584.4:c.148-153_148-150dup	XP_005264641.1:n.148-153_148-150dup
XM_005264585.5:c.145-153_145-150dup	XP_005264642.1:n.145-153_145-150dup
XR_001738969.1:n.306-153_306-150dup
NM_001130987.2:c.148-153_148-150dup MANE Select	NP_001124459.1:n.148-153_148-150dup
NM_001130455.2:c.148-153_148-150dup	NP_001123927.1:n.148-153_148-150dup
NM_001130976.2:c.145-153_145-150dup	NP_001124448.1:n.145-153_145-150dup
NM_001130977.2:c.145-153_145-150dup	NP_001124449.1:n.145-153_145-150dup
NM_001130978.2:c.145-153_145-150dup	NP_001124450.1:n.145-153_145-150dup
NM_001130979.2:c.145-153_145-150dup	NP_001124451.1:n.145-153_145-150dup
NM_001130980.2:c.145-153_145-150dup	NP_001124452.1:n.145-153_145-150dup
NM_001130981.2:c.145-153_145-150dup	NP_001124453.1:n.145-153_145-150dup
NM_001130982.2:c.148-153_148-150dup	NP_001124454.1:n.148-153_148-150dup
NM_001130983.2:c.148-153_148-150dup	NP_001124455.1:n.148-153_148-150dup
NM_001130984.2:c.148-153_148-150dup	NP_001124456.1:n.148-153_148-150dup
NM_001130985.2:c.148-153_148-150dup	NP_001124457.1:n.148-153_148-150dup
NM_001130986.2:c.148-153_148-150dup	NP_001124458.1:n.148-153_148-150dup
NM_003494.4:c.145-153_145-150dup MANE Plus Clinical	NP_003485.1:n.145-153_145-150dup