Canonical Allele Identifier: CA533256297

Gene: DYSF

Linked Data

• ClinVar Variation Id: 2675002
• ClinVar RCV Id: RCV003467891 ; RCV003738465
• dbSNP Id: rs1559080091
• gnomAD v2: 2-71753471-C-CGCAGAGTG
• gnomAD v4: 2-71526341-C-CGCAGAGTG
• MyVariant Identifiers: chr2:g.71753471_71753472insGCAGAGTG (hg19) ; chr2:g.71526341_71526342insGCAGAGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71526342_71526349dup , CM000664.2:g.71526342_71526349dup	GRCh38
NC_000002.11:g.71753472_71753479dup , CM000664.1:g.71753472_71753479dup	GRCh37
NC_000002.10:g.71606980_71606987dup	NCBI36
NG_008694.1:g.77720_77727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.1176_1180+3dup
ENST00000410020.8:c.1272_1276+3dup
ENST00000258104.7:c.1176_1180+3dup
ENST00000394120.6:c.1179_1183+3dup
ENST00000409366.5:c.1179_1183+3dup
ENST00000409582.7:c.1269_1273+3dup
ENST00000409651.5:c.1272_1276+3dup
ENST00000409744.5:c.1179_1183+3dup
ENST00000409762.5:c.1269_1273+3dup
ENST00000410020.7:c.1272_1276+3dup
ENST00000410041.1:c.1272_1276+3dup
ENST00000413539.6:c.1269_1273+3dup
ENST00000429174.6:c.1176_1180+3dup
NM_001130455.1:c.1179_1183+3dup
NM_001130976.1:c.1176_1180+3dup
NM_001130977.1:c.1176_1180+3dup
NM_001130978.1:c.1176_1180+3dup
NM_001130979.1:c.1269_1273+3dup
NM_001130980.1:c.1269_1273+3dup
NM_001130981.1:c.1269_1273+3dup
NM_001130982.1:c.1272_1276+3dup
NM_001130983.1:c.1179_1183+3dup
NM_001130984.1:c.1179_1183+3dup
NM_001130985.1:c.1272_1276+3dup
NM_001130986.1:c.1179_1183+3dup
NM_001130987.1:c.1272_1276+3dup
NM_003494.3:c.1176_1180+3dup
XM_005264584.3:c.1272_1276+3dup
XM_005264585.3:c.1269_1273+3dup
XM_005264584.4:c.1272_1276+3dup
XM_005264585.5:c.1269_1273+3dup
XR_001738969.1:n.1430_1434+3dup
NM_001130987.2:c.1272_1276+3dup
NM_001130455.2:c.1179_1183+3dup
NM_001130976.2:c.1176_1180+3dup
NM_001130977.2:c.1176_1180+3dup
NM_001130978.2:c.1176_1180+3dup
NM_001130979.2:c.1269_1273+3dup
NM_001130980.2:c.1269_1273+3dup
NM_001130981.2:c.1269_1273+3dup
NM_001130982.2:c.1272_1276+3dup
NM_001130983.2:c.1179_1183+3dup
NM_001130984.2:c.1179_1183+3dup
NM_001130985.2:c.1272_1276+3dup
NM_001130986.2:c.1179_1183+3dup
NM_003494.4:c.1176_1180+3dup