Canonical Allele Identifier: CA222158

Gene: DYSF

Linked Data

• ClinVar Variation Id: 94308
• ClinVar RCV Id: RCV000178878 ; RCV000598847 ; RCV001336577 ; RCV001382515 ; RCV002498412
• dbSNP Id: rs398123782
• gnomAD v2: 2-71738946-GT-G
• gnomAD v3: 2-71511816-GT-G
• gnomAD v4: 2-71511816-GT-G
• MyVariant Identifiers: chr2:g.71738947del (hg19) ; chr2:g.71738947delT (hg19) ; chr2:g.71511817del (hg38)
• PubMed: PMID:20544924

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71511817del , CM000664.2:g.71511817del	GRCh38
NC_000002.11:g.71738947del , CM000664.1:g.71738947del	GRCh37
NC_000002.10:g.71592455del	NCBI36
NG_008694.1:g.63195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258104.8:c.353del MANE Plus Clinical	ENSP00000258104.3:p.Val118AlafsTer?
ENST00000410020.8:c.356del MANE Select	ENSP00000386881.3:p.Val119AlafsTer?
ENST00000258104.7:c.353del	ENSP00000258104.3:p.Val118AlafsTer?
ENST00000394120.6:c.356del	ENSP00000377678.2:p.Val119AlafsTer?
ENST00000409366.5:c.356del	ENSP00000386512.1:p.Val119AlafsTer?
ENST00000409582.7:c.353del	ENSP00000386547.3:p.Val118AlafsTer?
ENST00000409651.5:c.356del	ENSP00000386683.1:p.Val119AlafsTer?
ENST00000409744.5:c.356del	ENSP00000386285.1:p.Val119AlafsTer?
ENST00000409762.5:c.353del	ENSP00000387137.1:p.Val118AlafsTer?
ENST00000410020.7:c.356del	ENSP00000386881.3:p.Val119AlafsTer?
ENST00000410041.1:c.356del	ENSP00000386617.1:p.Val119AlafsTer?
ENST00000413539.6:c.353del	ENSP00000407046.2:p.Val118AlafsTer?
ENST00000429174.6:c.353del	ENSP00000398305.2:p.Val118AlafsTer?
NM_001130455.1:c.356del	NP_001123927.1:p.Val119AlafsTer?
NM_001130976.1:c.353del	NP_001124448.1:p.Val118AlafsTer?
NM_001130977.1:c.353del	NP_001124449.1:p.Val118AlafsTer?
NM_001130978.1:c.353del	NP_001124450.1:p.Val118AlafsTer?
NM_001130979.1:c.353del	NP_001124451.1:p.Val118AlafsTer?
NM_001130980.1:c.353del	NP_001124452.1:p.Val118AlafsTer?
NM_001130981.1:c.353del	NP_001124453.1:p.Val118AlafsTer?
NM_001130982.1:c.356del	NP_001124454.1:p.Val119AlafsTer?
NM_001130983.1:c.356del	NP_001124455.1:p.Val119AlafsTer?
NM_001130984.1:c.356del	NP_001124456.1:p.Val119AlafsTer?
NM_001130985.1:c.356del	NP_001124457.1:p.Val119AlafsTer?
NM_001130986.1:c.356del	NP_001124458.1:p.Val119AlafsTer?
NM_001130987.1:c.356del	NP_001124459.1:p.Val119AlafsTer?
NM_003494.3:c.353del	NP_003485.1:p.Val118AlafsTer?
XM_005264584.3:c.356del	XP_005264641.1:p.Val119AlafsTer?
XM_005264585.3:c.353del	XP_005264642.1:p.Val118AlafsTer?
XM_005264584.4:c.356del	XP_005264641.1:p.Val119AlafsTer?
XM_005264585.5:c.353del	XP_005264642.1:p.Val118AlafsTer?
XR_001738969.1:n.514del
NM_001130987.2:c.356del MANE Select	NP_001124459.1:p.Val119AlafsTer?
NM_001130455.2:c.356del	NP_001123927.1:p.Val119AlafsTer?
NM_001130976.2:c.353del	NP_001124448.1:p.Val118AlafsTer?
NM_001130977.2:c.353del	NP_001124449.1:p.Val118AlafsTer?
NM_001130978.2:c.353del	NP_001124450.1:p.Val118AlafsTer?
NM_001130979.2:c.353del	NP_001124451.1:p.Val118AlafsTer?
NM_001130980.2:c.353del	NP_001124452.1:p.Val118AlafsTer?
NM_001130981.2:c.353del	NP_001124453.1:p.Val118AlafsTer?
NM_001130982.2:c.356del	NP_001124454.1:p.Val119AlafsTer?
NM_001130983.2:c.356del	NP_001124455.1:p.Val119AlafsTer?
NM_001130984.2:c.356del	NP_001124456.1:p.Val119AlafsTer?
NM_001130985.2:c.356del	NP_001124457.1:p.Val119AlafsTer?
NM_001130986.2:c.356del	NP_001124458.1:p.Val119AlafsTer?
NM_003494.4:c.353del MANE Plus Clinical	NP_003485.1:p.Val118AlafsTer?