Canonical Allele Identifier: CA6884187

Gene: PUS1

Linked Data

• ClinVar Variation Id: 2063115
• ClinVar RCV Id: RCV002948212 ; RCV003916658
• dbSNP Id: rs761410867
• ExAC: 12:132425833 CT / C
• gnomAD v2: 12-132425833-CT-C
• gnomAD v3: 12-131941288-CT-C
• gnomAD v4: 12-131941288-CT-C
• MyVariant Identifiers: chr12:g.132425834del (hg19) ; chr12:g.131941289del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131941289del , CM000674.2:g.131941289del	GRCh38
NC_000012.11:g.132425834del , CM000674.1:g.132425834del	GRCh37
NC_000012.10:g.130991787del	NCBI36
NG_013039.1:g.17090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376649.8:c.545-3del MANE Select	ENSP00000365837.3:n.545-3del
ENST00000322060.9:c.461-3del	ENSP00000324726.5:n.461-3del
ENST00000376649.7:c.545-3del	ENSP00000365837.3:n.545-3del
ENST00000443358.6:c.461-3del	ENSP00000392451.2:n.461-3del
ENST00000535067.5:c.358-2250del	ENSP00000443969.1:n.358-2250del
ENST00000537484.1:c.470-3del	ENSP00000440179.1:n.470-3del
ENST00000542167.2:c.386-3del	ENSP00000438948.1:n.386-3del
ENST00000543754.1:n.363del
NM_001002019.2:c.461-3del	NP_001002019.1:n.461-3del
NM_001002020.2:c.461-3del	NP_001002020.1:n.461-3del
NM_025215.5:c.545-3del	NP_079491.2:n.545-3del
XM_011538768.1:c.146-3del	XP_011537070.1:n.146-3del
XM_011538768.3:c.146-3del	XP_011537070.1:n.146-3del
XR_001748872.1:n.1000-3del
NM_001002019.3:c.461-3del	NP_001002019.1:n.461-3del
NM_001002020.3:c.461-3del	NP_001002020.1:n.461-3del
NM_025215.6:c.545-3del MANE Select	NP_079491.2:n.545-3del