Canonical Allele Identifier: CA2577633570

Gene: PCNT

Linked Data

• ClinVar Variation Id: 2799423
• ClinVar RCV Id: RCV003668512
• gnomAD v4: 21-46366999-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367002del , CM000683.2:g.46367002del	GRCh38
NC_000021.8:g.47786917del , CM000683.1:g.47786917del	GRCh37
NC_000021.7:g.46611345del	NCBI36
NG_008961.1:g.47882del
NG_008961.2:g.47881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1524del	ENSP00000511987.1:n.*1524del
ENST00000695525.1:n.3114del
ENST00000695558.1:c.3028del	ENSP00000512015.1:p.Thr1010ArgfsTer3
ENST00000703224.1:c.*2271del	ENSP00000515242.1:n.*2271del
ENST00000359568.10:c.3028del MANE Select	ENSP00000352572.5:p.Thr1010ArgfsTer3
ENST00000359568.9:c.3028del	ENSP00000352572.5:p.Thr1010ArgfsTer3
ENST00000480896.5:n.3297del
NM_001315529.1:c.2674del	NP_001302458.1:p.Thr892ArgfsTer3
NM_006031.5:c.3028del	NP_006022.3:p.Thr1010ArgfsTer3
XM_005261124.3:c.3028del	XP_005261181.1:p.Thr1010ArgfsTer3
XM_011529593.1:c.3109del	XP_011527895.1:p.Thr1037ArgfsTer3
XM_011529594.1:c.3109del	XP_011527896.1:p.Thr1037ArgfsTer3
XM_005261124.5:c.3028del	XP_005261181.1:p.Thr1010ArgfsTer3
XM_011529594.3:c.3109del	XP_011527896.1:p.Thr1037ArgfsTer3
XM_017028362.2:c.3028del	XP_016883851.1:p.Thr1010ArgfsTer3
XM_017028363.1:c.2674del	XP_016883852.1:p.Thr892ArgfsTer3
XM_024452082.1:c.1912del	XP_024307850.1:p.Thr638ArgfsTer3
XM_024452083.1:c.808del	XP_024307851.1:p.Thr270ArgfsTer3
NM_006031.6:c.3028del MANE Select	NP_006022.3:p.Thr1010ArgfsTer3
NM_001315529.2:c.2674del	NP_001302458.1:p.Thr892ArgfsTer3