Canonical Allele Identifier: CA2818110750

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367071del , CM000683.2:g.46367071del	GRCh38
NC_000021.8:g.47786986del , CM000683.1:g.47786986del	GRCh37
NC_000021.7:g.46611414del	NCBI36
NG_008961.1:g.47951del
NG_008961.2:g.47950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1593del	ENSP00000511987.1:n.*1593del
ENST00000695525.1:n.3183del
ENST00000695558.1:c.3097del	ENSP00000512015.1:p.His1033ThrfsTer6
ENST00000703224.1:c.*2340del	ENSP00000515242.1:n.*2340del
ENST00000359568.10:c.3097del MANE Select	ENSP00000352572.5:p.His1033ThrfsTer6
ENST00000359568.9:c.3097del	ENSP00000352572.5:p.His1033ThrfsTer6
ENST00000480896.5:n.3366del
NM_001315529.1:c.2743del	NP_001302458.1:p.His915ThrfsTer6
NM_006031.5:c.3097del	NP_006022.3:p.His1033ThrfsTer6
XM_005261124.3:c.3097del	XP_005261181.1:p.His1033ThrfsTer6
XM_011529593.1:c.3178del	XP_011527895.1:p.His1060ThrfsTer6
XM_011529594.1:c.3178del	XP_011527896.1:p.His1060ThrfsTer6
XM_005261124.5:c.3097del	XP_005261181.1:p.His1033ThrfsTer6
XM_011529594.3:c.3178del	XP_011527896.1:p.His1060ThrfsTer6
XM_017028362.2:c.3097del	XP_016883851.1:p.His1033ThrfsTer6
XM_017028363.1:c.2743del	XP_016883852.1:p.His915ThrfsTer6
XM_024452082.1:c.1981del	XP_024307850.1:p.His661ThrfsTer6
XM_024452083.1:c.877del	XP_024307851.1:p.His293ThrfsTer6
NM_006031.6:c.3097del MANE Select	NP_006022.3:p.His1033ThrfsTer6
NM_001315529.2:c.2743del	NP_001302458.1:p.His915ThrfsTer6