Canonical Allele Identifier: CA2655020869

Gene: PCNT

Linked Data

• gnomAD v4: 21-46367087-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367088del , CM000683.2:g.46367088del	GRCh38
NC_000021.8:g.47787003del , CM000683.1:g.47787003del	GRCh37
NC_000021.7:g.46611431del	NCBI36
NG_008961.1:g.47968del
NG_008961.2:g.47967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1610del	ENSP00000511987.1:n.*1610del
ENST00000695525.1:n.3200del
ENST00000695558.1:c.3114del	ENSP00000512015.1:p.Ser1039AlafsTer?
ENST00000703224.1:c.*2357del	ENSP00000515242.1:n.*2357del
ENST00000359568.10:c.3114del MANE Select	ENSP00000352572.5:p.Ser1039AlafsTer?
ENST00000359568.9:c.3114del	ENSP00000352572.5:p.Ser1039AlafsTer?
ENST00000480896.5:n.3383del
NM_001315529.1:c.2760del	NP_001302458.1:p.Ser921AlafsTer?
NM_006031.5:c.3114del	NP_006022.3:p.Ser1039AlafsTer?
XM_005261124.3:c.3114del	XP_005261181.1:p.Ser1039AlafsTer?
XM_011529593.1:c.3195del	XP_011527895.1:p.Ser1066AlafsTer?
XM_011529594.1:c.3195del	XP_011527896.1:p.Ser1066AlafsTer?
XM_005261124.5:c.3114del	XP_005261181.1:p.Ser1039AlafsTer?
XM_011529594.3:c.3195del	XP_011527896.1:p.Ser1066AlafsTer?
XM_017028362.2:c.3114del	XP_016883851.1:p.Ser1039AlafsTer?
XM_017028363.1:c.2760del	XP_016883852.1:p.Ser921AlafsTer?
XM_024452082.1:c.1998del	XP_024307850.1:p.Ser667AlafsTer?
XM_024452083.1:c.894del	XP_024307851.1:p.Ser299AlafsTer?
NM_006031.6:c.3114del MANE Select	NP_006022.3:p.Ser1039AlafsTer?
NM_001315529.2:c.2760del	NP_001302458.1:p.Ser921AlafsTer?