Canonical Allele Identifier: CA2366447959

Gene: PCIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947808_45947828delinsCTCGGGCCCCTGGGGCCTCAG , CM000682.2:g.45947808_45947828delinsCTCGGGCCCCTGGGGCCTCAG	GRCh38
NC_000020.10:g.44576447_44576467delinsCTCGGGCCCCTGGGGCCTCAG , CM000682.1:g.44576447_44576467delinsCTCGGGCCCCTGGGGCCTCAG	GRCh37
NC_000020.9:g.44009854_44009874delinsCTCGGGCCCCTGGGGCCTCAG	NCBI36
NG_029772.1:g.29367_29387delinsCTGAGGCCCCAGGGGCCCGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG MANE Select	ENSP00000361486.3:n.*53_*73delinsCTCGGGCC...
ENST00000372409.7:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	ENSP00000361486.3:n.*53_*73delinsCTCGGGCC...
ENST00000479348.2:c.1109_1129delinsCTCGGGCCCCTGGGGCCTCAG
NM_022104.3:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	NP_071387.1:n.*53_*73delinsCTCGGGCCCCTGGG...
XM_011528980.1:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	XP_011527282.1:n.*53_*73delinsCTCGGGCCCCT...
XM_011528981.1:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	XP_011527283.1:n.*53_*73delinsCTCGGGCCCCT...
XM_011528982.1:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	XP_011527284.1:n.*53_*73delinsCTCGGGCCCCT...
XM_011528980.3:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	XP_011527282.1:n.*53_*73delinsCTCGGGCCCCT...
XM_011528981.3:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	XP_011527283.1:n.*53_*73delinsCTCGGGCCCCT...
XM_017028013.2:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	XP_016883502.1:n.*53_*73delinsCTCGGGCCCCT...
XM_017028014.2:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG	XP_016883503.1:n.*53_*73delinsCTCGGGCCCCT...
NM_022104.4:c.*53_*73delinsCTCGGGCCCCTGGGGCCTCAG MANE Select	NP_071387.1:n.*53_*73delinsCTCGGGCCCCTGGG...