Canonical Allele Identifier: CA2392673251

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46425912_46425913delinsCA , CM000683.2:g.46425912_46425913delinsCA	GRCh38
NC_000021.8:g.47845826_47845827delinsCA , CM000683.1:g.47845826_47845827delinsCA	GRCh37
NC_000021.7:g.46670254_46670255delinsCA	NCBI36
NG_008961.1:g.106791_106792delinsCA
NG_008961.2:g.106791_106792delinsCA

Transcript Alleles

HGVS	Amino-acid Change
NM_006031.6:c.7261_7262delinsCA MANE Select	NP_006022.3:p.His2421=
ENST00000359568.10:c.7261_7262delinsCA MANE Select	ENSP00000352572.5:p.His2421=
NM_001315529.1:c.6907_6908delinsCA	NP_001302458.1:p.His2303=
NM_001315529.2:c.6907_6908delinsCA	NP_001302458.1:p.His2303=
NM_006031.5:c.7261_7262delinsCA	NP_006022.3:p.His2421=
ENST00000359568.9:c.7261_7262delinsCA	ENSP00000352572.5:p.His2421=
ENST00000418394.2:c.80_81delinsCA
ENST00000480896.5:n.7530_7531delinsCA
ENST00000695527.1:n.1606_1607delinsCA
ENST00000695528.1:c.1354-1710_1354-1709delinsCA	ENSP00000511990.1:n.1354-1710_1354-1709delinsCA
ENST00000695529.1:n.1354-1710_1354-1709delinsCA
ENST00000695530.1:c.80_81delinsCA
ENST00000695558.1:c.7294_7295delinsCA	ENSP00000512015.1:p.His2432=
ENST00000703224.1:c.*6504_*6505delinsCA	ENSP00000515242.1:n.*6504_*6505delinsCA
XM_005261124.3:c.7294_7295delinsCA	XP_005261181.1:p.His2432=
XM_005261124.5:c.7294_7295delinsCA	XP_005261181.1:p.His2432=
XM_011529593.1:c.7372_7373delinsCA	XP_011527895.1:p.His2458=
XM_011529594.1:c.7342_7343delinsCA	XP_011527896.1:p.His2448=
XM_011529594.3:c.7342_7343delinsCA	XP_011527896.1:p.His2448=
XM_017028362.2:c.7261_7262delinsCA	XP_016883851.1:p.His2421=
XM_017028363.1:c.6940_6941delinsCA	XP_016883852.1:p.His2314=
XM_024452082.1:c.6178_6179delinsCA	XP_024307850.1:p.His2060=
XM_024452083.1:c.5074_5075delinsCA	XP_024307851.1:p.His1692=