Canonical Allele Identifier: CA315641360

Gene: PCIF1

Linked Data

• dbSNP Id: rs565767696
• gnomAD v2: 20-44576447-CTCGGGCCCCTGGGGCCTCAG-C
• gnomAD v3: 20-45947808-CTCGGGCCCCTGGGGCCTCAG-C
• gnomAD v4: 20-45947808-CTCGGGCCCCTGGGGCCTCAG-C
• MyVariant Identifiers: chr20:g.44576448_44576467del (hg19) ; chr20:g.45947809_45947828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947809_45947828del , CM000682.2:g.45947809_45947828del	GRCh38
NC_000020.10:g.44576448_44576467del , CM000682.1:g.44576448_44576467del	GRCh37
NC_000020.9:g.44009855_44009874del	NCBI36
NG_029772.1:g.29367_29386del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372409.8:c.*54_*73del MANE Select	ENSP00000361486.3:n.*54_*73del
ENST00000372409.7:c.*54_*73del	ENSP00000361486.3:n.*54_*73del
ENST00000479348.2:c.1110_1129del
NM_022104.3:c.*54_*73del	NP_071387.1:n.*54_*73del
XM_011528980.1:c.*54_*73del	XP_011527282.1:n.*54_*73del
XM_011528981.1:c.*54_*73del	XP_011527283.1:n.*54_*73del
XM_011528982.1:c.*54_*73del	XP_011527284.1:n.*54_*73del
XM_011528980.3:c.*54_*73del	XP_011527282.1:n.*54_*73del
XM_011528981.3:c.*54_*73del	XP_011527283.1:n.*54_*73del
XM_017028013.2:c.*54_*73del	XP_016883502.1:n.*54_*73del
XM_017028014.2:c.*54_*73del	XP_016883503.1:n.*54_*73del
NM_022104.4:c.*54_*73del MANE Select	NP_071387.1:n.*54_*73del