Canonical Allele Identifier: CA2573054964

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46428411del , CM000683.2:g.46428411del	GRCh38
NC_000021.8:g.47848325del , CM000683.1:g.47848325del	GRCh37
NC_000021.7:g.46672753del	NCBI36
NG_008961.1:g.109290del
NG_008961.2:g.109290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.330del
ENST00000695527.1:n.1856del
ENST00000695528.1:c.1544del	ENSP00000511990.1:p.Lys515SerfsTer27
ENST00000695529.1:n.1544del
ENST00000695530.1:c.330del
ENST00000695531.1:n.1113del
ENST00000695532.1:n.1113del
ENST00000695558.1:c.7544del	ENSP00000512015.1:p.Lys2515SerfsTer27
ENST00000703224.1:c.*6754del	ENSP00000515242.1:n.*6754del
ENST00000359568.10:c.7511del MANE Select	ENSP00000352572.5:p.Lys2504SerfsTer27
ENST00000359568.9:c.7511del	ENSP00000352572.5:p.Lys2504SerfsTer27
ENST00000480896.5:n.7780del
NM_001315529.1:c.7157del	NP_001302458.1:p.Lys2386SerfsTer27
NM_006031.5:c.7511del	NP_006022.3:p.Lys2504SerfsTer27
XM_005261124.3:c.7544del	XP_005261181.1:p.Lys2515SerfsTer27
XM_011529593.1:c.7622del	XP_011527895.1:p.Lys2541SerfsTer27
XM_011529594.1:c.7592del	XP_011527896.1:p.Lys2531SerfsTer27
XM_005261124.5:c.7544del	XP_005261181.1:p.Lys2515SerfsTer27
XM_011529594.3:c.7592del	XP_011527896.1:p.Lys2531SerfsTer27
XM_017028362.2:c.7511del	XP_016883851.1:p.Lys2504SerfsTer27
XM_017028363.1:c.7190del	XP_016883852.1:p.Lys2397SerfsTer27
XM_024452082.1:c.6428del	XP_024307850.1:p.Lys2143SerfsTer27
XM_024452083.1:c.5324del	XP_024307851.1:p.Lys1775SerfsTer27
NM_006031.6:c.7511del MANE Select	NP_006022.3:p.Lys2504SerfsTer27
NM_001315529.2:c.7157del	NP_001302458.1:p.Lys2386SerfsTer27