Canonical Allele Identifier: CA913190078

Gene: DYSF

Linked Data

• ClinVar Variation Id: 594946
• ClinVar RCV Id: RCV000730351 ; RCV001855637
• dbSNP Id: rs1573943846

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71553180_71553191dup , CM000664.2:g.71553180_71553191dup	GRCh38
NC_000002.11:g.71780310_71780321dup , CM000664.1:g.71780310_71780321dup	GRCh37
NC_000002.10:g.71633818_71633829dup	NCBI36
NG_008694.1:g.104558_104569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1922_1930+3dup
ENST00000410020.8:c.1976_1984+3dup
ENST00000258104.7:c.1922_1930+3dup
ENST00000394120.6:c.1925_1933+3dup
ENST00000409366.5:c.1925_1933+3dup
ENST00000409582.7:c.1973_1981+3dup
ENST00000409651.5:c.2018_2026+3dup
ENST00000409744.5:c.1883_1891+3dup
ENST00000409762.5:c.1973_1981+3dup
ENST00000410020.7:c.1976_1984+3dup
ENST00000410041.1:c.1976_1984+3dup
ENST00000413539.6:c.2015_2023+3dup
ENST00000429174.6:c.1922_1930+3dup
NM_001130455.1:c.1925_1933+3dup
NM_001130976.1:c.1880_1888+3dup
NM_001130977.1:c.1880_1888+3dup
NM_001130978.1:c.1922_1930+3dup
NM_001130979.1:c.2015_2023+3dup
NM_001130980.1:c.1973_1981+3dup
NM_001130981.1:c.1973_1981+3dup
NM_001130982.1:c.2018_2026+3dup
NM_001130983.1:c.1925_1933+3dup
NM_001130984.1:c.1883_1891+3dup
NM_001130985.1:c.1976_1984+3dup
NM_001130986.1:c.1883_1891+3dup
NM_001130987.1:c.1976_1984+3dup
NM_003494.3:c.1922_1930+3dup
XM_005264584.3:c.2018_2026+3dup
XM_005264585.3:c.2015_2023+3dup
XM_005264584.4:c.2018_2026+3dup
XM_005264585.5:c.2015_2023+3dup
XR_001738969.1:n.2176_2184+3dup
NM_001130987.2:c.1976_1984+3dup
NM_001130455.2:c.1925_1933+3dup
NM_001130976.2:c.1880_1888+3dup
NM_001130977.2:c.1880_1888+3dup
NM_001130978.2:c.1922_1930+3dup
NM_001130979.2:c.2015_2023+3dup
NM_001130980.2:c.1973_1981+3dup
NM_001130981.2:c.1973_1981+3dup
NM_001130982.2:c.2018_2026+3dup
NM_001130983.2:c.1925_1933+3dup
NM_001130984.2:c.1883_1891+3dup
NM_001130985.2:c.1976_1984+3dup
NM_001130986.2:c.1883_1891+3dup
NM_003494.4:c.1922_1930+3dup