Canonical Allele Identifier: CA2842603139

Gene: PCIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947712dup , CM000682.2:g.45947712dup	GRCh38
NC_000020.10:g.44576351dup , CM000682.1:g.44576351dup	GRCh37
NC_000020.9:g.44009758dup	NCBI36
NG_029772.1:g.29483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.2072dup MANE Select	ENSP00000361486.3:p.Arg693ProfsTer2
ENST00000372409.7:c.2072dup	ENSP00000361486.3:p.Arg693ProfsTer2
ENST00000479348.2:c.1013dup
NM_022104.3:c.2072dup	NP_071387.1:p.Arg693ProfsTer2
XM_011528980.1:c.2072dup	XP_011527282.1:p.Arg693ProfsTer2
XM_011528981.1:c.2072dup	XP_011527283.1:p.Arg693ProfsTer2
XM_011528982.1:c.1028dup	XP_011527284.1:p.Arg345ProfsTer2
XM_011528980.3:c.2072dup	XP_011527282.1:p.Arg693ProfsTer2
XM_011528981.3:c.2072dup	XP_011527283.1:p.Arg693ProfsTer2
XM_017028013.2:c.2072dup	XP_016883502.1:p.Arg693ProfsTer2
XM_017028014.2:c.1028dup	XP_016883503.1:p.Arg345ProfsTer2
NM_022104.4:c.2072dup MANE Select	NP_071387.1:p.Arg693ProfsTer2