Canonical Allele Identifier: CA2580098980

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46349810_46349811del , CM000683.2:g.46349810_46349811del	GRCh38
NC_000021.8:g.47769724_47769725del , CM000683.1:g.47769724_47769725del	GRCh37
NC_000021.7:g.46594152_46594153del	NCBI36
NG_008961.1:g.30689_30690del
NG_008961.2:g.30689_30690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.1334_1335del	ENSP00000511987.1:p.Lys445ThrfsTer?
ENST00000695525.1:n.1420_1421del
ENST00000695526.1:c.1259_1260del	ENSP00000511988.1:p.Lys420ThrfsTer12
ENST00000695558.1:c.1334_1335del	ENSP00000512015.1:p.Lys445ThrfsTer12
ENST00000703224.1:c.*577_*578del	ENSP00000515242.1:n.*577_*578del
ENST00000359568.10:c.1334_1335del MANE Select	ENSP00000352572.5:p.Lys445ThrfsTer12
ENST00000359568.9:c.1334_1335del	ENSP00000352572.5:p.Lys445ThrfsTer12
ENST00000466474.5:n.685_686del
ENST00000480896.5:n.1603_1604del
ENST00000483844.1:n.389_390del
NM_001315529.1:c.980_981del	NP_001302458.1:p.Lys327ThrfsTer12
NM_006031.5:c.1334_1335del	NP_006022.3:p.Lys445ThrfsTer12
XM_005261124.3:c.1334_1335del	XP_005261181.1:p.Lys445ThrfsTer12
XM_011529593.1:c.1415_1416del	XP_011527895.1:p.Lys472ThrfsTer12
XM_011529594.1:c.1415_1416del	XP_011527896.1:p.Lys472ThrfsTer12
XM_005261124.5:c.1334_1335del	XP_005261181.1:p.Lys445ThrfsTer12
XM_011529594.3:c.1415_1416del	XP_011527896.1:p.Lys472ThrfsTer12
XM_017028362.2:c.1334_1335del	XP_016883851.1:p.Lys445ThrfsTer12
XM_017028363.1:c.980_981del	XP_016883852.1:p.Lys327ThrfsTer12
XM_024452082.1:c.218_219del	XP_024307850.1:p.Lys73ThrfsTer12
XM_024452083.1:c.-775_-774del	XP_024307851.1:n.-775_-774del
NM_006031.6:c.1334_1335del MANE Select	NP_006022.3:p.Lys445ThrfsTer12
NM_001315529.2:c.980_981del	NP_001302458.1:p.Lys327ThrfsTer12