Canonical Allele Identifier: CA2366448062

Gene: PCIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947982_45947984delinsTTG , CM000682.2:g.45947982_45947984delinsTTG	GRCh38
NC_000020.10:g.44576621_44576623delinsTTG , CM000682.1:g.44576621_44576623delinsTTG	GRCh37
NC_000020.9:g.44010028_44010030delinsTTG	NCBI36
NG_029772.1:g.29211_29213delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*227_*229delinsTTG MANE Select	ENSP00000361486.3:n.*227_*229delinsTTG
ENST00000372409.7:c.*227_*229delinsTTG	ENSP00000361486.3:n.*227_*229delinsTTG
ENST00000479348.2:c.1283_1285delinsTTG
NM_022104.3:c.*227_*229delinsTTG	NP_071387.1:n.*227_*229delinsTTG
XM_011528980.1:c.*227_*229delinsTTG	XP_011527282.1:n.*227_*229delinsTTG
XM_011528981.1:c.*227_*229delinsTTG	XP_011527283.1:n.*227_*229delinsTTG
XM_011528982.1:c.*227_*229delinsTTG	XP_011527284.1:n.*227_*229delinsTTG
XM_011528980.3:c.*227_*229delinsTTG	XP_011527282.1:n.*227_*229delinsTTG
XM_011528981.3:c.*227_*229delinsTTG	XP_011527283.1:n.*227_*229delinsTTG
XM_017028013.2:c.*227_*229delinsTTG	XP_016883502.1:n.*227_*229delinsTTG
XM_017028014.2:c.*227_*229delinsTTG	XP_016883503.1:n.*227_*229delinsTTG
NM_022104.4:c.*227_*229delinsTTG MANE Select	NP_071387.1:n.*227_*229delinsTTG