Canonical Allele Identifier: CA2740094749

Gene: PCNT

Linked Data

• ClinVar Variation Id: 2978520
• ClinVar RCV Id: RCV003839166

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46367087_46367117del , CM000683.2:g.46367087_46367117del	GRCh38
NC_000021.8:g.47787002_47787032del , CM000683.1:g.47787002_47787032del	GRCh37
NC_000021.7:g.46611430_46611460del	NCBI36
NG_008961.1:g.47967_47997del
NG_008961.2:g.47966_47996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1609_*1639del	ENSP00000511987.1:n.*1609_*1639del
ENST00000695525.1:n.3199_3229del
ENST00000695558.1:c.3113_3143del	ENSP00000512015.1:p.Val1038AlafsTer?
ENST00000703224.1:c.*2356_*2386del	ENSP00000515242.1:n.*2356_*2386del
ENST00000359568.10:c.3113_3143del MANE Select	ENSP00000352572.5:p.Val1038AlafsTer?
ENST00000359568.9:c.3113_3143del	ENSP00000352572.5:p.Val1038AlafsTer?
ENST00000480896.5:n.3382_3412del
NM_001315529.1:c.2759_2789del	NP_001302458.1:p.Val920AlafsTer?
NM_006031.5:c.3113_3143del	NP_006022.3:p.Val1038AlafsTer?
XM_005261124.3:c.3113_3143del	XP_005261181.1:p.Val1038AlafsTer?
XM_011529593.1:c.3194_3224del	XP_011527895.1:p.Val1065AlafsTer?
XM_011529594.1:c.3194_3224del	XP_011527896.1:p.Val1065AlafsTer?
XM_005261124.5:c.3113_3143del	XP_005261181.1:p.Val1038AlafsTer?
XM_011529594.3:c.3194_3224del	XP_011527896.1:p.Val1065AlafsTer?
XM_017028362.2:c.3113_3143del	XP_016883851.1:p.Val1038AlafsTer?
XM_017028363.1:c.2759_2789del	XP_016883852.1:p.Val920AlafsTer?
XM_024452082.1:c.1997_2027del	XP_024307850.1:p.Val666AlafsTer?
XM_024452083.1:c.893_923del	XP_024307851.1:p.Val298AlafsTer?
NM_006031.6:c.3113_3143del MANE Select	NP_006022.3:p.Val1038AlafsTer?
NM_001315529.2:c.2759_2789del	NP_001302458.1:p.Val920AlafsTer?