Canonical Allele Identifier: CA2366447879

Gene: PCIF1

Linked Data

• dbSNP Id: rs2083546059
• gnomAD v4: 20-45947700-AGGACCGGGACTCGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947702_45947715del , CM000682.2:g.45947702_45947715del	GRCh38
NC_000020.10:g.44576341_44576354del , CM000682.1:g.44576341_44576354del	GRCh37
NC_000020.9:g.44009748_44009761del	NCBI36
NG_029772.1:g.29481_29494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.2062_2075del MANE Select	ENSP00000361486.3:p.Asp688ProfsTer2
ENST00000372409.7:c.2062_2075del	ENSP00000361486.3:p.Asp688ProfsTer2
ENST00000479348.2:c.1003_1016del
NM_022104.3:c.2062_2075del	NP_071387.1:p.Asp688ProfsTer2
XM_011528980.1:c.2062_2075del	XP_011527282.1:p.Asp688ProfsTer2
XM_011528981.1:c.2062_2075del	XP_011527283.1:p.Asp688ProfsTer2
XM_011528982.1:c.1018_1031del	XP_011527284.1:p.Asp340ProfsTer2
XM_011528980.3:c.2062_2075del	XP_011527282.1:p.Asp688ProfsTer2
XM_011528981.3:c.2062_2075del	XP_011527283.1:p.Asp688ProfsTer2
XM_017028013.2:c.2062_2075del	XP_016883502.1:p.Asp688ProfsTer2
XM_017028014.2:c.1018_1031del	XP_016883503.1:p.Asp340ProfsTer2
NM_022104.4:c.2062_2075del MANE Select	NP_071387.1:p.Asp688ProfsTer2