Canonical Allele Identifier: CA636176161

Gene: PCIF1

Linked Data

• dbSNP Id: rs1408716571
• gnomAD v2: 20-44576114-T-TGGCCA
• gnomAD v4: 20-45947475-T-TGGCCA
• MyVariant Identifiers: chr20:g.44576114_44576115insGGCCA (hg19) ; chr20:g.45947475_45947476insGGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947485_45947489dup , CM000682.2:g.45947485_45947489dup	GRCh38
NC_000020.10:g.44576124_44576128dup , CM000682.1:g.44576124_44576128dup	GRCh37
NC_000020.9:g.44009531_44009535dup	NCBI36
NG_029772.1:g.29715_29719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1884-39_1884-35dup MANE Select	ENSP00000361486.3:n.1884-39_1884-35dup
ENST00000372409.7:c.1884-39_1884-35dup	ENSP00000361486.3:n.1884-39_1884-35dup
ENST00000479348.2:c.786_790dup
NM_022104.3:c.1884-39_1884-35dup	NP_071387.1:n.1884-39_1884-35dup
XM_011528980.1:c.1884-39_1884-35dup	XP_011527282.1:n.1884-39_1884-35dup
XM_011528981.1:c.1884-39_1884-35dup	XP_011527283.1:n.1884-39_1884-35dup
XM_011528982.1:c.840-39_840-35dup	XP_011527284.1:n.840-39_840-35dup
XM_011528980.3:c.1884-39_1884-35dup	XP_011527282.1:n.1884-39_1884-35dup
XM_011528981.3:c.1884-39_1884-35dup	XP_011527283.1:n.1884-39_1884-35dup
XM_017028013.2:c.1884-39_1884-35dup	XP_016883502.1:n.1884-39_1884-35dup
XM_017028014.2:c.840-39_840-35dup	XP_016883503.1:n.840-39_840-35dup
NM_022104.4:c.1884-39_1884-35dup MANE Select	NP_071387.1:n.1884-39_1884-35dup