Canonical Allele Identifier: CA2697548679

Gene: RNASEH2C

Linked Data

• ClinVar Variation Id: 2750402
• ClinVar RCV Id: RCV003495671

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65720023_65720030del , CM000673.2:g.65720023_65720030del	GRCh38
NC_000011.9:g.65487494_65487501del , CM000673.1:g.65487494_65487501del	GRCh37
NC_000011.8:g.65244070_65244077del	NCBI36
NG_008976.2:g.5909_5916del , LRG_280:g.5909_5916del
NG_033057.1:g.13022_13029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.468+15_468+22del MANE Select	ENSP00000308193.5:n.468+15_468+22del
ENST00000528220.2:n.697+15_697+22del
ENST00000531596.6:c.468+15_468+22del	ENSP00000435717.2:n.468+15_468+22del
ENST00000534482.6:c.468+15_468+22del	ENSP00000432081.2:n.468+15_468+22del
ENST00000642430.1:n.361+15_361+22del
ENST00000643214.1:n.542+15_542+22del
ENST00000644142.1:c.468+15_468+22del	ENSP00000493695.1:n.468+15_468+22del
ENST00000644198.1:n.365+15_365+22del
ENST00000646597.1:n.405+15_405+22del
ENST00000308418.8:c.468+15_468+22del	ENSP00000308193.4:n.468+15_468+22del
ENST00000527610.1:c.483_490del	ENSP00000432897.1:p.Val162LeufsTer28
ENST00000528220.1:c.219+15_219+22del	ENSP00000431555.1:n.219+15_219+22del
ENST00000531596.5:c.449+15_449+22del
ENST00000533698.5:c.347+15_347+22del
ENST00000534482.5:c.362+15_362+22del
NM_032193.3:c.468+15_468+22del , LRG_280t1:c.468+15_468+22del	NP_115569.2:n.468+15_468+22del
NM_032193.4:c.468+15_468+22del MANE Select	NP_115569.2:n.468+15_468+22del