Canonical Allele Identifier: CA2653107581

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947737-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947738del , CM000682.2:g.45947738del	GRCh38
NC_000020.10:g.44576377del , CM000682.1:g.44576377del	GRCh37
NC_000020.9:g.44009784del	NCBI36
NG_029772.1:g.29457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.2098del MANE Select	ENSP00000361486.3:p.Glu700SerfsTer18
ENST00000372409.7:c.2098del	ENSP00000361486.3:p.Glu700SerfsTer18
ENST00000479348.2:c.1039del
NM_022104.3:c.2098del	NP_071387.1:p.Glu700SerfsTer18
XM_011528980.1:c.2098del	XP_011527282.1:p.Glu700SerfsTer18
XM_011528981.1:c.2098del	XP_011527283.1:p.Glu700SerfsTer18
XM_011528982.1:c.1054del	XP_011527284.1:p.Glu352SerfsTer18
XM_011528980.3:c.2098del	XP_011527282.1:p.Glu700SerfsTer18
XM_011528981.3:c.2098del	XP_011527283.1:p.Glu700SerfsTer18
XM_017028013.2:c.2098del	XP_016883502.1:p.Glu700SerfsTer18
XM_017028014.2:c.1054del	XP_016883503.1:p.Glu352SerfsTer18
NM_022104.4:c.2098del MANE Select	NP_071387.1:p.Glu700SerfsTer18