Canonical Allele Identifier: CA920221985

Gene: PCIF1

Linked Data

• dbSNP Id: rs1600512076
• gnomAD v4: 20-45947683-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947689_45947691del , CM000682.2:g.45947689_45947691del	GRCh38
NC_000020.10:g.44576328_44576330del , CM000682.1:g.44576328_44576330del	GRCh37
NC_000020.9:g.44009735_44009737del	NCBI36
NG_029772.1:g.29509_29511del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.2049_2051del MANE Select	ENSP00000361486.3:p.Ser684del
ENST00000372409.7:c.2049_2051del	ENSP00000361486.3:p.Ser684del
ENST00000479348.2:c.990_992del
NM_022104.3:c.2049_2051del	NP_071387.1:p.Ser684del
XM_011528980.1:c.2049_2051del	XP_011527282.1:p.Ser684del
XM_011528981.1:c.2049_2051del	XP_011527283.1:p.Ser684del
XM_011528982.1:c.1005_1007del	XP_011527284.1:p.Ser336del
XM_011528980.3:c.2049_2051del	XP_011527282.1:p.Ser684del
XM_011528981.3:c.2049_2051del	XP_011527283.1:p.Ser684del
XM_017028013.2:c.2049_2051del	XP_016883502.1:p.Ser684del
XM_017028014.2:c.1005_1007del	XP_016883503.1:p.Ser336del
NM_022104.4:c.2049_2051del MANE Select	NP_071387.1:p.Ser684del