Canonical Allele Identifier: CA891842854

Gene: DYSF

Linked Data

• ClinVar Variation Id: 579639
• ClinVar RCV Id: RCV000702977
• dbSNP Id: rs1559141367
• MyVariant Identifiers: chr2:g.71780168_71780169del (hg19) ; chr2:g.71553038_71553039del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71553038_71553039del , CM000664.2:g.71553038_71553039del	GRCh38
NC_000002.11:g.71780168_71780169del , CM000664.1:g.71780168_71780169del	GRCh37
NC_000002.10:g.71633676_71633677del	NCBI36
NG_008694.1:g.104416_104417del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258104.8:c.1780_1781del MANE Plus Clinical	ENSP00000258104.3:p.Leu594ValfsTer15
ENST00000410020.8:c.1834_1835del MANE Select	ENSP00000386881.3:p.Leu612ValfsTer15
ENST00000258104.7:c.1780_1781del	ENSP00000258104.3:p.Leu594ValfsTer15
ENST00000394120.6:c.1783_1784del	ENSP00000377678.2:p.Leu595ValfsTer15
ENST00000409366.5:c.1783_1784del	ENSP00000386512.1:p.Leu595ValfsTer15
ENST00000409582.7:c.1831_1832del	ENSP00000386547.3:p.Leu611ValfsTer15
ENST00000409651.5:c.1876_1877del	ENSP00000386683.1:p.Leu626ValfsTer15
ENST00000409744.5:c.1741_1742del	ENSP00000386285.1:p.Leu581ValfsTer15
ENST00000409762.5:c.1831_1832del	ENSP00000387137.1:p.Leu611ValfsTer15
ENST00000410020.7:c.1834_1835del	ENSP00000386881.3:p.Leu612ValfsTer15
ENST00000410041.1:c.1834_1835del	ENSP00000386617.1:p.Leu612ValfsTer15
ENST00000413539.6:c.1873_1874del	ENSP00000407046.2:p.Leu625ValfsTer15
ENST00000429174.6:c.1780_1781del	ENSP00000398305.2:p.Leu594ValfsTer15
NM_001130455.1:c.1783_1784del	NP_001123927.1:p.Leu595ValfsTer15
NM_001130976.1:c.1738_1739del	NP_001124448.1:p.Leu580ValfsTer15
NM_001130977.1:c.1738_1739del	NP_001124449.1:p.Leu580ValfsTer15
NM_001130978.1:c.1780_1781del	NP_001124450.1:p.Leu594ValfsTer15
NM_001130979.1:c.1873_1874del	NP_001124451.1:p.Leu625ValfsTer15
NM_001130980.1:c.1831_1832del	NP_001124452.1:p.Leu611ValfsTer15
NM_001130981.1:c.1831_1832del	NP_001124453.1:p.Leu611ValfsTer15
NM_001130982.1:c.1876_1877del	NP_001124454.1:p.Leu626ValfsTer15
NM_001130983.1:c.1783_1784del	NP_001124455.1:p.Leu595ValfsTer15
NM_001130984.1:c.1741_1742del	NP_001124456.1:p.Leu581ValfsTer15
NM_001130985.1:c.1834_1835del	NP_001124457.1:p.Leu612ValfsTer15
NM_001130986.1:c.1741_1742del	NP_001124458.1:p.Leu581ValfsTer15
NM_001130987.1:c.1834_1835del	NP_001124459.1:p.Leu612ValfsTer15
NM_003494.3:c.1780_1781del	NP_003485.1:p.Leu594ValfsTer15
XM_005264584.3:c.1876_1877del	XP_005264641.1:p.Leu626ValfsTer15
XM_005264585.3:c.1873_1874del	XP_005264642.1:p.Leu625ValfsTer15
XM_005264584.4:c.1876_1877del	XP_005264641.1:p.Leu626ValfsTer15
XM_005264585.5:c.1873_1874del	XP_005264642.1:p.Leu625ValfsTer15
XR_001738969.1:n.2034_2035del
NM_001130987.2:c.1834_1835del MANE Select	NP_001124459.1:p.Leu612ValfsTer15
NM_001130455.2:c.1783_1784del	NP_001123927.1:p.Leu595ValfsTer15
NM_001130976.2:c.1738_1739del	NP_001124448.1:p.Leu580ValfsTer15
NM_001130977.2:c.1738_1739del	NP_001124449.1:p.Leu580ValfsTer15
NM_001130978.2:c.1780_1781del	NP_001124450.1:p.Leu594ValfsTer15
NM_001130979.2:c.1873_1874del	NP_001124451.1:p.Leu625ValfsTer15
NM_001130980.2:c.1831_1832del	NP_001124452.1:p.Leu611ValfsTer15
NM_001130981.2:c.1831_1832del	NP_001124453.1:p.Leu611ValfsTer15
NM_001130982.2:c.1876_1877del	NP_001124454.1:p.Leu626ValfsTer15
NM_001130983.2:c.1783_1784del	NP_001124455.1:p.Leu595ValfsTer15
NM_001130984.2:c.1741_1742del	NP_001124456.1:p.Leu581ValfsTer15
NM_001130985.2:c.1834_1835del	NP_001124457.1:p.Leu612ValfsTer15
NM_001130986.2:c.1741_1742del	NP_001124458.1:p.Leu581ValfsTer15
NM_003494.4:c.1780_1781del MANE Plus Clinical	NP_003485.1:p.Leu594ValfsTer15