Canonical Allele Identifier: CA2653107695

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947853-ATGAAGATTATGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947855_45947867del , CM000682.2:g.45947855_45947867del	GRCh38
NC_000020.10:g.44576494_44576506del , CM000682.1:g.44576494_44576506del	GRCh37
NC_000020.9:g.44009901_44009913del	NCBI36
NG_029772.1:g.29329_29341del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.*100_*112del MANE Select	ENSP00000361486.3:n.*100_*112del
ENST00000372409.7:c.*100_*112del	ENSP00000361486.3:n.*100_*112del
ENST00000479348.2:c.1156_1168del
NM_022104.3:c.*100_*112del	NP_071387.1:n.*100_*112del
XM_011528980.1:c.*100_*112del	XP_011527282.1:n.*100_*112del
XM_011528981.1:c.*100_*112del	XP_011527283.1:n.*100_*112del
XM_011528982.1:c.*100_*112del	XP_011527284.1:n.*100_*112del
XM_011528980.3:c.*100_*112del	XP_011527282.1:n.*100_*112del
XM_011528981.3:c.*100_*112del	XP_011527283.1:n.*100_*112del
XM_017028013.2:c.*100_*112del	XP_016883502.1:n.*100_*112del
XM_017028014.2:c.*100_*112del	XP_016883503.1:n.*100_*112del
NM_022104.4:c.*100_*112del MANE Select	NP_071387.1:n.*100_*112del