Canonical Allele Identifier: CA6107667
Community Standard Title: NM_032193.4(RNASEH2C):c.468+12_468+13del
Gene: RNASEH2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65720033_65720034del , CM000673.2:g.65720033_65720034del GRCh38
NC_000011.9:g.65487504_65487505del , CM000673.1:g.65487504_65487505del GRCh37
NC_000011.8:g.65244080_65244081del NCBI36
NG_008976.2:g.5906_5907del , LRG_280:g.5906_5907del
NG_033057.1:g.13032_13033del

Transcript Alleles

HGVS Amino-acid Change
NM_032193.4:c.468+12_468+13del MANE Select NP_115569.2:n.468+12_468+13del
ENST00000308418.10:c.468+12_468+13del MANE Select ENSP00000308193.5:n.468+12_468+13del
NM_032193.3:c.468+12_468+13del , LRG_280t1:c.468+12_468+13del NP_115569.2:n.468+12_468+13del
ENST00000308418.8:c.468+12_468+13del ENSP00000308193.4:n.468+12_468+13del
ENST00000527610.1:c.480_481del ENSP00000432897.1:p.Gly161SerfsTer?
ENST00000528220.1:c.219+12_219+13del ENSP00000431555.1:n.219+12_219+13del
ENST00000528220.2:n.697+12_697+13del
ENST00000531596.5:c.449+12_449+13del
ENST00000531596.6:c.468+12_468+13del ENSP00000435717.2:n.468+12_468+13del
ENST00000533698.5:c.347+12_347+13del
ENST00000534482.5:c.362+12_362+13del
ENST00000534482.6:c.468+12_468+13del ENSP00000432081.2:n.468+12_468+13del
ENST00000642430.1:n.361+12_361+13del
ENST00000643214.1:n.542+12_542+13del
ENST00000644142.1:c.468+12_468+13del ENSP00000493695.1:n.468+12_468+13del
ENST00000644198.1:n.365+12_365+13del
ENST00000646597.1:n.405+12_405+13del