Canonical Allele Identifier: CA2653107438

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947660-C-CACAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947661_45947666dup , CM000682.2:g.45947661_45947666dup	GRCh38
NC_000020.10:g.44576300_44576305dup , CM000682.1:g.44576300_44576305dup	GRCh37
NC_000020.9:g.44009707_44009712dup	NCBI36
NG_029772.1:g.29529_29534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.2021_2026dup MANE Select	ENSP00000361486.3:p.Ser675_Ser676insTyrSer
ENST00000372409.7:c.2021_2026dup	ENSP00000361486.3:p.Ser675_Ser676insTyrSer
ENST00000479348.2:c.962_967dup
NM_022104.3:c.2021_2026dup	NP_071387.1:p.Ser675_Ser676insTyrSer
XM_011528980.1:c.2021_2026dup	XP_011527282.1:p.Ser675_Ser676insTyrSer
XM_011528981.1:c.2021_2026dup	XP_011527283.1:p.Ser675_Ser676insTyrSer
XM_011528982.1:c.977_982dup	XP_011527284.1:p.Ser327_Ser328insTyrSer
XM_011528980.3:c.2021_2026dup	XP_011527282.1:p.Ser675_Ser676insTyrSer
XM_011528981.3:c.2021_2026dup	XP_011527283.1:p.Ser675_Ser676insTyrSer
XM_017028013.2:c.2021_2026dup	XP_016883502.1:p.Ser675_Ser676insTyrSer
XM_017028014.2:c.977_982dup	XP_016883503.1:p.Ser327_Ser328insTyrSer
NM_022104.4:c.2021_2026dup MANE Select	NP_071387.1:p.Ser675_Ser676insTyrSer