Canonical Allele Identifier: CA744845313

Gene: PCIF1

Linked Data

• dbSNP Id: rs1479317039
• gnomAD v3: 20-45947961-G-GC
• gnomAD v4: 20-45947961-G-GC
• MyVariant Identifiers: chr20:g.44576600_44576601insC (hg19) ; chr20:g.45947961_45947962insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947965dup , CM000682.2:g.45947965dup	GRCh38
NC_000020.10:g.44576604dup , CM000682.1:g.44576604dup	GRCh37
NC_000020.9:g.44010011dup	NCBI36
NG_029772.1:g.29233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*210dup MANE Select	ENSP00000361486.3:n.*210dup
ENST00000372409.7:c.*210dup	ENSP00000361486.3:n.*210dup
ENST00000479348.2:c.1266dup
NM_022104.3:c.*210dup	NP_071387.1:n.*210dup
XM_011528980.1:c.*210dup	XP_011527282.1:n.*210dup
XM_011528981.1:c.*210dup	XP_011527283.1:n.*210dup
XM_011528982.1:c.*210dup	XP_011527284.1:n.*210dup
XM_011528980.3:c.*210dup	XP_011527282.1:n.*210dup
XM_011528981.3:c.*210dup	XP_011527283.1:n.*210dup
XM_017028013.2:c.*210dup	XP_016883502.1:n.*210dup
XM_017028014.2:c.*210dup	XP_016883503.1:n.*210dup
NM_022104.4:c.*210dup MANE Select	NP_071387.1:n.*210dup