Canonical Allele Identifier: CA9884628

Gene: PCIF1

Linked Data

• dbSNP Id: rs751457698
• ExAC: 20:44576124 A / AGGCCC
• gnomAD v2: 20-44576124-A-AGGCCC
• gnomAD v3: 20-45947485-A-AGGCCC
• gnomAD v4: 20-45947485-A-AGGCCC
• MyVariant Identifiers: chr20:g.44576124_44576125insGGCCC (hg19) ; chr20:g.45947485_45947486insGGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947486_45947490dup , CM000682.2:g.45947486_45947490dup	GRCh38
NC_000020.10:g.44576125_44576129dup , CM000682.1:g.44576125_44576129dup	GRCh37
NC_000020.9:g.44009532_44009536dup	NCBI36
NG_029772.1:g.29705_29709dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1884-38_1884-34dup MANE Select	ENSP00000361486.3:n.1884-38_1884-34dup
ENST00000372409.7:c.1884-38_1884-34dup	ENSP00000361486.3:n.1884-38_1884-34dup
ENST00000479348.2:c.787_791dup
NM_022104.3:c.1884-38_1884-34dup	NP_071387.1:n.1884-38_1884-34dup
XM_011528980.1:c.1884-38_1884-34dup	XP_011527282.1:n.1884-38_1884-34dup
XM_011528981.1:c.1884-38_1884-34dup	XP_011527283.1:n.1884-38_1884-34dup
XM_011528982.1:c.840-38_840-34dup	XP_011527284.1:n.840-38_840-34dup
XM_011528980.3:c.1884-38_1884-34dup	XP_011527282.1:n.1884-38_1884-34dup
XM_011528981.3:c.1884-38_1884-34dup	XP_011527283.1:n.1884-38_1884-34dup
XM_017028013.2:c.1884-38_1884-34dup	XP_016883502.1:n.1884-38_1884-34dup
XM_017028014.2:c.840-38_840-34dup	XP_016883503.1:n.840-38_840-34dup
NM_022104.4:c.1884-38_1884-34dup MANE Select	NP_071387.1:n.1884-38_1884-34dup