Canonical Allele Identifier: CA2839847472

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367052dup , CM000683.2:g.46367052dup	GRCh38
NC_000021.8:g.47786967dup , CM000683.1:g.47786967dup	GRCh37
NC_000021.7:g.46611395dup	NCBI36
NG_008961.1:g.47932dup
NG_008961.2:g.47931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1574dup	ENSP00000511987.1:n.*1574dup
ENST00000695525.1:n.3164dup
ENST00000695558.1:c.3078dup	ENSP00000512015.1:p.Leu1027AlafsTer?
ENST00000703224.1:c.*2321dup	ENSP00000515242.1:n.*2321dup
ENST00000359568.10:c.3078dup MANE Select	ENSP00000352572.5:p.Leu1027AlafsTer?
ENST00000359568.9:c.3078dup	ENSP00000352572.5:p.Leu1027AlafsTer?
ENST00000480896.5:n.3347dup
NM_001315529.1:c.2724dup	NP_001302458.1:p.Leu909AlafsTer?
NM_006031.5:c.3078dup	NP_006022.3:p.Leu1027AlafsTer?
XM_005261124.3:c.3078dup	XP_005261181.1:p.Leu1027AlafsTer?
XM_011529593.1:c.3159dup	XP_011527895.1:p.Leu1054AlafsTer?
XM_011529594.1:c.3159dup	XP_011527896.1:p.Leu1054AlafsTer?
XM_005261124.5:c.3078dup	XP_005261181.1:p.Leu1027AlafsTer?
XM_011529594.3:c.3159dup	XP_011527896.1:p.Leu1054AlafsTer?
XM_017028362.2:c.3078dup	XP_016883851.1:p.Leu1027AlafsTer?
XM_017028363.1:c.2724dup	XP_016883852.1:p.Leu909AlafsTer?
XM_024452082.1:c.1962dup	XP_024307850.1:p.Leu655AlafsTer?
XM_024452083.1:c.858dup	XP_024307851.1:p.Leu287AlafsTer?
NM_006031.6:c.3078dup MANE Select	NP_006022.3:p.Leu1027AlafsTer?
NM_001315529.2:c.2724dup	NP_001302458.1:p.Leu909AlafsTer?