Canonical Allele Identifier: CA2842603135

Gene: PCIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947549del , CM000682.2:g.45947549del	GRCh38
NC_000020.10:g.44576188del , CM000682.1:g.44576188del	GRCh37
NC_000020.9:g.44009595del	NCBI36
NG_029772.1:g.29647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1909del MANE Select	ENSP00000361486.3:p.His637ThrfsTer27
ENST00000372409.7:c.1909del	ENSP00000361486.3:p.His637ThrfsTer27
ENST00000479348.2:c.850del
NM_022104.3:c.1909del	NP_071387.1:p.His637ThrfsTer27
XM_011528980.1:c.1909del	XP_011527282.1:p.His637ThrfsTer27
XM_011528981.1:c.1909del	XP_011527283.1:p.His637ThrfsTer27
XM_011528982.1:c.865del	XP_011527284.1:p.His289ThrfsTer27
XM_011528980.3:c.1909del	XP_011527282.1:p.His637ThrfsTer27
XM_011528981.3:c.1909del	XP_011527283.1:p.His637ThrfsTer27
XM_017028013.2:c.1909del	XP_016883502.1:p.His637ThrfsTer27
XM_017028014.2:c.865del	XP_016883503.1:p.His289ThrfsTer27
NM_022104.4:c.1909del MANE Select	NP_071387.1:p.His637ThrfsTer27