Canonical Allele Identifier: CA2655020863

Gene: PCNT

Linked Data

• gnomAD v4: 21-46366969-GAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46366973_46366975del , CM000683.2:g.46366973_46366975del	GRCh38
NC_000021.8:g.47786888_47786890del , CM000683.1:g.47786888_47786890del	GRCh37
NC_000021.7:g.46611316_46611318del	NCBI36
NG_008961.1:g.47853_47855del
NG_008961.2:g.47852_47854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466474.6:c.*1495_*1497del	ENSP00000511987.1:n.*1495_*1497del
ENST00000695525.1:n.3085_3087del
ENST00000695558.1:c.2999_3001del	ENSP00000512015.1:p.Gln1000del
ENST00000703224.1:c.*2242_*2244del	ENSP00000515242.1:n.*2242_*2244del
ENST00000359568.10:c.2999_3001del MANE Select	ENSP00000352572.5:p.Gln1000del
ENST00000359568.9:c.2999_3001del	ENSP00000352572.5:p.Gln1000del
ENST00000480896.5:n.3268_3270del
NM_001315529.1:c.2645_2647del	NP_001302458.1:p.Gln882del
NM_006031.5:c.2999_3001del	NP_006022.3:p.Gln1000del
XM_005261124.3:c.2999_3001del	XP_005261181.1:p.Gln1000del
XM_011529593.1:c.3080_3082del	XP_011527895.1:p.Gln1027del
XM_011529594.1:c.3080_3082del	XP_011527896.1:p.Gln1027del
XM_005261124.5:c.2999_3001del	XP_005261181.1:p.Gln1000del
XM_011529594.3:c.3080_3082del	XP_011527896.1:p.Gln1027del
XM_017028362.2:c.2999_3001del	XP_016883851.1:p.Gln1000del
XM_017028363.1:c.2645_2647del	XP_016883852.1:p.Gln882del
XM_024452082.1:c.1883_1885del	XP_024307850.1:p.Gln628del
XM_024452083.1:c.779_781del	XP_024307851.1:p.Gln260del
NM_006031.6:c.2999_3001del MANE Select	NP_006022.3:p.Gln1000del
NM_001315529.2:c.2645_2647del	NP_001302458.1:p.Gln882del