Canonical Allele Identifier: CA315641427

Gene: PCIF1

Linked Data

• dbSNP Id: rs935055338
• gnomAD v2: 20-44576478-GC-G
• gnomAD v3: 20-45947839-GC-G
• gnomAD v4: 20-45947839-GC-G
• MyVariant Identifiers: chr20:g.44576479del (hg19) ; chr20:g.45947840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947840del , CM000682.2:g.45947840del	GRCh38
NC_000020.10:g.44576479del , CM000682.1:g.44576479del	GRCh37
NC_000020.9:g.44009886del	NCBI36
NG_029772.1:g.29355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*85del MANE Select	ENSP00000361486.3:n.*85del
ENST00000372409.7:c.*85del	ENSP00000361486.3:n.*85del
ENST00000479348.2:c.1141del
NM_022104.3:c.*85del	NP_071387.1:n.*85del
XM_011528980.1:c.*85del	XP_011527282.1:n.*85del
XM_011528981.1:c.*85del	XP_011527283.1:n.*85del
XM_011528982.1:c.*85del	XP_011527284.1:n.*85del
XM_011528980.3:c.*85del	XP_011527282.1:n.*85del
XM_011528981.3:c.*85del	XP_011527283.1:n.*85del
XM_017028013.2:c.*85del	XP_016883502.1:n.*85del
XM_017028014.2:c.*85del	XP_016883503.1:n.*85del
NM_022104.4:c.*85del MANE Select	NP_071387.1:n.*85del