Canonical Allele Identifier: CA2655023821

Gene: PCNT

Linked Data

• gnomAD v4: 21-46411730-C-CCCACTCTGCCGAGCTGGAGGCCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411733_46411756dup , CM000683.2:g.46411733_46411756dup	GRCh38
NC_000021.8:g.47831647_47831670dup , CM000683.1:g.47831647_47831670dup	GRCh37
NC_000021.7:g.46656075_46656098dup	NCBI36
NG_008961.1:g.92612_92635dup
NG_008961.2:g.92612_92635dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000695527.1:n.5_28dup
ENST00000695558.1:c.5693_5716dup	ENSP00000512015.1:p.Val1905_Leu1906insHis...
ENST00000703224.1:c.*4903_*4926dup	ENSP00000515242.1:n.*4903_*4926dup
ENST00000359568.10:c.5660_5683dup MANE Select	ENSP00000352572.5:p.Val1894_Leu1895insHis...
ENST00000359568.9:c.5660_5683dup	ENSP00000352572.5:p.Val1894_Leu1895insHis...
ENST00000480896.5:n.5929_5952dup
NM_001315529.1:c.5306_5329dup	NP_001302458.1:p.Val1776_Leu1777insHisSer...
NM_006031.5:c.5660_5683dup	NP_006022.3:p.Val1894_Leu1895insHisSerAla...
XM_005261124.3:c.5693_5716dup	XP_005261181.1:p.Val1905_Leu1906insHisSer...
XM_011529593.1:c.5771_5794dup	XP_011527895.1:p.Val1931_Leu1932insHisSer...
XM_011529594.1:c.5741_5764dup	XP_011527896.1:p.Val1921_Leu1922insHisSer...
XM_005261124.5:c.5693_5716dup	XP_005261181.1:p.Val1905_Leu1906insHisSer...
XM_011529594.3:c.5741_5764dup	XP_011527896.1:p.Val1921_Leu1922insHisSer...
XM_017028362.2:c.5660_5683dup	XP_016883851.1:p.Val1894_Leu1895insHisSer...
XM_017028363.1:c.5339_5362dup	XP_016883852.1:p.Val1787_Leu1788insHisSer...
XM_024452082.1:c.4577_4600dup	XP_024307850.1:p.Val1533_Leu1534insHisSer...
XM_024452083.1:c.3473_3496dup	XP_024307851.1:p.Val1165_Leu1166insHisSer...
NM_006031.6:c.5660_5683dup MANE Select	NP_006022.3:p.Val1894_Leu1895insHisSerAla...
NM_001315529.2:c.5306_5329dup	NP_001302458.1:p.Val1776_Leu1777insHisSer...