Canonical Allele Identifier: CA2577413016

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947981-CTTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947984_45947987del , CM000682.2:g.45947984_45947987del	GRCh38
NC_000020.10:g.44576623_44576626del , CM000682.1:g.44576623_44576626del	GRCh37
NC_000020.9:g.44010030_44010033del	NCBI36
NG_029772.1:g.29210_29213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*229_*232del MANE Select	ENSP00000361486.3:n.*229_*232del
ENST00000372409.7:c.*229_*232del	ENSP00000361486.3:n.*229_*232del
ENST00000479348.2:c.1285_1288del
NM_022104.3:c.*229_*232del	NP_071387.1:n.*229_*232del
XM_011528980.1:c.*229_*232del	XP_011527282.1:n.*229_*232del
XM_011528981.1:c.*229_*232del	XP_011527283.1:n.*229_*232del
XM_011528982.1:c.*229_*232del	XP_011527284.1:n.*229_*232del
XM_011528980.3:c.*229_*232del	XP_011527282.1:n.*229_*232del
XM_011528981.3:c.*229_*232del	XP_011527283.1:n.*229_*232del
XM_017028013.2:c.*229_*232del	XP_016883502.1:n.*229_*232del
XM_017028014.2:c.*229_*232del	XP_016883503.1:n.*229_*232del
NM_022104.4:c.*229_*232del MANE Select	NP_071387.1:n.*229_*232del