Canonical Allele Identifier: CA9884622

Gene: PCIF1

Linked Data

• dbSNP Id: rs764003306
• ExAC: 20:44576095 C / CA
• gnomAD v2: 20-44576095-C-CA
• gnomAD v4: 20-45947456-C-CA
• MyVariant Identifiers: chr20:g.44576095_44576096insA (hg19) ; chr20:g.45947456_45947457insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947457dup , CM000682.2:g.45947457dup	GRCh38
NC_000020.10:g.44576096dup , CM000682.1:g.44576096dup	GRCh37
NC_000020.9:g.44009503dup	NCBI36
NG_029772.1:g.29738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1883+19dup MANE Select	ENSP00000361486.3:n.1883+19dup
ENST00000372409.7:c.1883+19dup	ENSP00000361486.3:n.1883+19dup
ENST00000479348.2:c.758dup
NM_022104.3:c.1883+19dup	NP_071387.1:n.1883+19dup
XM_011528980.1:c.1883+19dup	XP_011527282.1:n.1883+19dup
XM_011528981.1:c.1883+19dup	XP_011527283.1:n.1883+19dup
XM_011528982.1:c.839+19dup	XP_011527284.1:n.839+19dup
XM_011528980.3:c.1883+19dup	XP_011527282.1:n.1883+19dup
XM_011528981.3:c.1883+19dup	XP_011527283.1:n.1883+19dup
XM_017028013.2:c.1883+19dup	XP_016883502.1:n.1883+19dup
XM_017028014.2:c.839+19dup	XP_016883503.1:n.839+19dup
NM_022104.4:c.1883+19dup MANE Select	NP_071387.1:n.1883+19dup