Canonical Allele Identifier: CA1017930042

Gene: PCIF1

Linked Data

• dbSNP Id: rs2083541797
• gnomAD v4: 20-45947466-A-AGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947473_45947477dup , CM000682.2:g.45947473_45947477dup	GRCh38
NC_000020.10:g.44576112_44576116dup , CM000682.1:g.44576112_44576116dup	GRCh37
NC_000020.9:g.44009519_44009523dup	NCBI36
NG_029772.1:g.29724_29728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1883+35_1883+39dup MANE Select	ENSP00000361486.3:n.1883+35_1883+39dup
ENST00000372409.7:c.1883+35_1883+39dup	ENSP00000361486.3:n.1883+35_1883+39dup
ENST00000479348.2:c.774_778dup
NM_022104.3:c.1883+35_1883+39dup	NP_071387.1:n.1883+35_1883+39dup
XM_011528980.1:c.1883+35_1883+39dup	XP_011527282.1:n.1883+35_1883+39dup
XM_011528981.1:c.1883+35_1883+39dup	XP_011527283.1:n.1883+35_1883+39dup
XM_011528982.1:c.839+35_839+39dup	XP_011527284.1:n.839+35_839+39dup
XM_011528980.3:c.1883+35_1883+39dup	XP_011527282.1:n.1883+35_1883+39dup
XM_011528981.3:c.1883+35_1883+39dup	XP_011527283.1:n.1883+35_1883+39dup
XM_017028013.2:c.1883+35_1883+39dup	XP_016883502.1:n.1883+35_1883+39dup
XM_017028014.2:c.839+35_839+39dup	XP_016883503.1:n.839+35_839+39dup
NM_022104.4:c.1883+35_1883+39dup MANE Select	NP_071387.1:n.1883+35_1883+39dup