Canonical Allele Identifier: CA1017930251

Gene: PCIF1

Linked Data

• dbSNP Id: rs2083551167
• gnomAD v3: 20-45947970-CCT-C
• gnomAD v4: 20-45947970-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947971_45947972del , CM000682.2:g.45947971_45947972del	GRCh38
NC_000020.10:g.44576610_44576611del , CM000682.1:g.44576610_44576611del	GRCh37
NC_000020.9:g.44010017_44010018del	NCBI36
NG_029772.1:g.29223_29224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*216_*217del MANE Select	ENSP00000361486.3:n.*216_*217del
ENST00000372409.7:c.*216_*217del	ENSP00000361486.3:n.*216_*217del
ENST00000479348.2:c.1272_1273del
NM_022104.3:c.*216_*217del	NP_071387.1:n.*216_*217del
XM_011528980.1:c.*216_*217del	XP_011527282.1:n.*216_*217del
XM_011528981.1:c.*216_*217del	XP_011527283.1:n.*216_*217del
XM_011528982.1:c.*216_*217del	XP_011527284.1:n.*216_*217del
XM_011528980.3:c.*216_*217del	XP_011527282.1:n.*216_*217del
XM_011528981.3:c.*216_*217del	XP_011527283.1:n.*216_*217del
XM_017028013.2:c.*216_*217del	XP_016883502.1:n.*216_*217del
XM_017028014.2:c.*216_*217del	XP_016883503.1:n.*216_*217del
NM_022104.4:c.*216_*217del MANE Select	NP_071387.1:n.*216_*217del