Canonical Allele Identifier: CA2842673644

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411750dup , CM000683.2:g.46411750dup	GRCh38
NC_000021.8:g.47831664dup , CM000683.1:g.47831664dup	GRCh37
NC_000021.7:g.46656092dup	NCBI36
NG_008961.1:g.92629dup
NG_008961.2:g.92629dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.22dup
ENST00000695558.1:c.5710dup	ENSP00000512015.1:p.Ala1904GlyfsTer?
ENST00000703224.1:c.*4920dup	ENSP00000515242.1:n.*4920dup
ENST00000359568.10:c.5677dup MANE Select	ENSP00000352572.5:p.Ala1893GlyfsTer?
ENST00000359568.9:c.5677dup	ENSP00000352572.5:p.Ala1893GlyfsTer?
ENST00000480896.5:n.5946dup
NM_001315529.1:c.5323dup	NP_001302458.1:p.Ala1775GlyfsTer?
NM_006031.5:c.5677dup	NP_006022.3:p.Ala1893GlyfsTer?
XM_005261124.3:c.5710dup	XP_005261181.1:p.Ala1904GlyfsTer?
XM_011529593.1:c.5788dup	XP_011527895.1:p.Ala1930GlyfsTer?
XM_011529594.1:c.5758dup	XP_011527896.1:p.Ala1920GlyfsTer?
XM_005261124.5:c.5710dup	XP_005261181.1:p.Ala1904GlyfsTer?
XM_011529594.3:c.5758dup	XP_011527896.1:p.Ala1920GlyfsTer?
XM_017028362.2:c.5677dup	XP_016883851.1:p.Ala1893GlyfsTer?
XM_017028363.1:c.5356dup	XP_016883852.1:p.Ala1786GlyfsTer?
XM_024452082.1:c.4594dup	XP_024307850.1:p.Ala1532GlyfsTer?
XM_024452083.1:c.3490dup	XP_024307851.1:p.Ala1164GlyfsTer?
NM_006031.6:c.5677dup MANE Select	NP_006022.3:p.Ala1893GlyfsTer?
NM_001315529.2:c.5323dup	NP_001302458.1:p.Ala1775GlyfsTer?