Canonical Allele Identifier: CA2580066125

Gene: RNASEH1

Linked Data

• ClinVar Variation Id: 1995860
• ClinVar RCV Id: RCV002801616

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.3549073_3549074del , CM000664.2:g.3549073_3549074del	GRCh38
NC_000002.11:g.3596663_3596664del , CM000664.1:g.3596663_3596664del	GRCh37
NC_000002.10:g.3574538_3574539del	NCBI36
NG_051310.1:g.14299_14300del

Transcript Alleles

HGVS	Amino-acid change
ENST00000315212.4:c.549_550del MANE Select	ENSP00000313350.3:p.Arg184SerfsTer11
ENST00000654051.1:c.549_550del	ENSP00000499604.1:p.Arg184SerfsTer11
ENST00000658393.1:c.549_550del	ENSP00000499330.1:p.Arg184SerfsTer11
ENST00000315212.3:c.549_550del	ENSP00000313350.3:p.Arg184SerfsTer11
ENST00000436842.5:c.*655_*656del	ENSP00000404926.1:n.*655_*656del
NM_001286834.1:c.471_472del	NP_001273763.1:p.Arg158SerfsTer11
NM_001286837.1:c.198_199del	NP_001273766.1:p.Arg67SerfsTer11
NM_002936.4:c.549_550del	NP_002927.2:p.Arg184SerfsTer11
XR_244873.1:n.656_657del
XR_922665.1:n.656_657del
XR_922666.1:n.656_657del
XR_922667.1:n.656_657del
XR_922668.1:n.656_657del
XR_922669.1:n.656_657del
XR_922670.1:n.656_657del
XR_922671.1:n.656_657del
XR_922672.1:n.656_657del
XR_922673.1:n.656_657del
XR_922674.1:n.656_657del
NM_001286834.2:c.471_472del	NP_001273763.1:p.Arg158SerfsTer11
NM_001286837.2:c.198_199del	NP_001273766.1:p.Arg67SerfsTer11
NM_002936.5:c.549_550del	NP_002927.2:p.Arg184SerfsTer11
NR_148532.1:n.660_661del
NR_148533.1:n.660_661del
NR_148534.1:n.660_661del
NM_001286837.3:c.198_199del	NP_001273766.1:p.Arg67SerfsTer11
NR_148532.2:n.622_623del
NR_148533.2:n.622_623del
NR_148534.2:n.622_623del
NM_001286834.3:c.471_472del	NP_001273763.1:p.Arg158SerfsTer11
NM_001378271.1:c.549_550del	NP_001365200.1:p.Arg184SerfsTer11
NM_001378272.1:c.546_547del	NP_001365201.1:p.Arg183SerfsTer11
NM_001378273.1:c.534_535del	NP_001365202.1:p.Arg179SerfsTer11
NM_002936.6:c.549_550del MANE Select	NP_002927.2:p.Arg184SerfsTer11
NR_165465.1:n.506_507del
NR_165466.1:n.591_592del
NR_165467.1:n.791_792del
NR_165468.1:n.594_595del