Canonical Allele Identifier: CA744844696

Gene: PCIF1

Linked Data

• dbSNP Id: rs1200777859
• MyVariant Identifiers: chr20:g.44576057_44576058insT (hg19) ; chr20:g.45947418_45947419insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947419dup , CM000682.2:g.45947419dup	GRCh38
NC_000020.10:g.44576058dup , CM000682.1:g.44576058dup	GRCh37
NC_000020.9:g.44009465dup	NCBI36
NG_029772.1:g.29776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.1864dup MANE Select	ENSP00000361486.3:p.Ser622PhefsTer?
ENST00000372409.7:c.1864dup	ENSP00000361486.3:p.Ser622PhefsTer?
ENST00000479348.2:c.720dup
NM_022104.3:c.1864dup	NP_071387.1:p.Ser622PhefsTer?
XM_011528980.1:c.1864dup	XP_011527282.1:p.Ser622PhefsTer?
XM_011528981.1:c.1864dup	XP_011527283.1:p.Ser622PhefsTer?
XM_011528982.1:c.820dup	XP_011527284.1:p.Ser274PhefsTer?
XM_011528980.3:c.1864dup	XP_011527282.1:p.Ser622PhefsTer?
XM_011528981.3:c.1864dup	XP_011527283.1:p.Ser622PhefsTer?
XM_017028013.2:c.1864dup	XP_016883502.1:p.Ser622PhefsTer?
XM_017028014.2:c.820dup	XP_016883503.1:p.Ser274PhefsTer?
NM_022104.4:c.1864dup MANE Select	NP_071387.1:p.Ser622PhefsTer?