Canonical Allele Identifier: CA1139666945

Gene: PCNT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46431687_46431688del , CM000683.2:g.46431687_46431688del	GRCh38
NC_000021.8:g.47851601_47851602del , CM000683.1:g.47851601_47851602del	GRCh37
NC_000021.7:g.46676029_46676030del	NCBI36
NG_008961.1:g.112566_112567del
NG_008961.2:g.112566_112567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.1042_1043del
ENST00000695527.1:n.2568_2569del
ENST00000695528.1:c.2256_2257del	ENSP00000511990.1:p.Glu753AlafsTer8
ENST00000695529.1:n.2256_2257del
ENST00000695530.1:c.1042_1043del
ENST00000695531.1:n.1825_1826del
ENST00000695532.1:n.1825_1826del
ENST00000695533.1:n.893_894del
ENST00000695534.1:n.854_855del
ENST00000695558.1:c.8256_8257del	ENSP00000512015.1:p.Glu2753AlafsTer8
ENST00000703224.1:c.*7466_*7467del	ENSP00000515242.1:n.*7466_*7467del
ENST00000703226.1:n.893_894del
ENST00000359568.10:c.8223_8224del MANE Select	ENSP00000352572.5:p.Glu2742AlafsTer8
ENST00000359568.9:c.8223_8224del	ENSP00000352572.5:p.Glu2742AlafsTer8
ENST00000480896.5:n.8492_8493del
ENST00000482575.1:n.230_231del
NM_001315529.1:c.7869_7870del	NP_001302458.1:p.Glu2624AlafsTer8
NM_006031.5:c.8223_8224del	NP_006022.3:p.Glu2742AlafsTer8
XM_005261124.3:c.8256_8257del	XP_005261181.1:p.Glu2753AlafsTer8
XM_011529593.1:c.8334_8335del	XP_011527895.1:p.Glu2779AlafsTer8
XM_011529594.1:c.8304_8305del	XP_011527896.1:p.Glu2769AlafsTer8
XM_005261124.5:c.8256_8257del	XP_005261181.1:p.Glu2753AlafsTer8
XM_011529594.3:c.8304_8305del	XP_011527896.1:p.Glu2769AlafsTer8
XM_017028362.2:c.8223_8224del	XP_016883851.1:p.Glu2742AlafsTer8
XM_017028363.1:c.7902_7903del	XP_016883852.1:p.Glu2635AlafsTer8
XM_024452082.1:c.7140_7141del	XP_024307850.1:p.Glu2381AlafsTer8
XM_024452083.1:c.6036_6037del	XP_024307851.1:p.Glu2013AlafsTer8
NM_006031.6:c.8223_8224del MANE Select	NP_006022.3:p.Glu2742AlafsTer8
NM_001315529.2:c.7869_7870del	NP_001302458.1:p.Glu2624AlafsTer8