Canonical Allele Identifier: CA2392665112

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46411892_46411893delinsTC , CM000683.2:g.46411892_46411893delinsTC	GRCh38
NC_000021.8:g.47831806_47831807delinsTC , CM000683.1:g.47831806_47831807delinsTC	GRCh37
NC_000021.7:g.46656234_46656235delinsTC	NCBI36
NG_008961.1:g.92771_92772delinsTC
NG_008961.2:g.92771_92772delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695527.1:n.164_165delinsTC
ENST00000695558.1:c.5852_5853delinsTC	ENSP00000512015.1:p.Phe1951=
ENST00000703224.1:c.*5062_*5063delinsTC	ENSP00000515242.1:n.*5062_*5063delinsTC
ENST00000359568.10:c.5819_5820delinsTC MANE Select	ENSP00000352572.5:p.Phe1940=
ENST00000359568.9:c.5819_5820delinsTC	ENSP00000352572.5:p.Phe1940=
ENST00000480896.5:n.6088_6089delinsTC
NM_001315529.1:c.5465_5466delinsTC	NP_001302458.1:p.Phe1822=
NM_006031.5:c.5819_5820delinsTC	NP_006022.3:p.Phe1940=
XM_005261124.3:c.5852_5853delinsTC	XP_005261181.1:p.Phe1951=
XM_011529593.1:c.5930_5931delinsTC	XP_011527895.1:p.Phe1977=
XM_011529594.1:c.5900_5901delinsTC	XP_011527896.1:p.Phe1967=
XM_005261124.5:c.5852_5853delinsTC	XP_005261181.1:p.Phe1951=
XM_011529594.3:c.5900_5901delinsTC	XP_011527896.1:p.Phe1967=
XM_017028362.2:c.5819_5820delinsTC	XP_016883851.1:p.Phe1940=
XM_017028363.1:c.5498_5499delinsTC	XP_016883852.1:p.Phe1833=
XM_024452082.1:c.4736_4737delinsTC	XP_024307850.1:p.Phe1579=
XM_024452083.1:c.3632_3633delinsTC	XP_024307851.1:p.Phe1211=
NM_006031.6:c.5819_5820delinsTC MANE Select	NP_006022.3:p.Phe1940=
NM_001315529.2:c.5465_5466delinsTC	NP_001302458.1:p.Phe1822=