Canonical Allele Identifier: CA2653107761

Gene: PCIF1

Linked Data

• gnomAD v4: 20-45947940-T-TCCTGATGCCTTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947941_45947954dup , CM000682.2:g.45947941_45947954dup	GRCh38
NC_000020.10:g.44576580_44576593dup , CM000682.1:g.44576580_44576593dup	GRCh37
NC_000020.9:g.44009987_44010000dup	NCBI36
NG_029772.1:g.29241_29254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*186_*199dup MANE Select	ENSP00000361486.3:n.*186_*199dup
ENST00000372409.7:c.*186_*199dup	ENSP00000361486.3:n.*186_*199dup
ENST00000479348.2:c.1242_1255dup
NM_022104.3:c.*186_*199dup	NP_071387.1:n.*186_*199dup
XM_011528980.1:c.*186_*199dup	XP_011527282.1:n.*186_*199dup
XM_011528981.1:c.*186_*199dup	XP_011527283.1:n.*186_*199dup
XM_011528982.1:c.*186_*199dup	XP_011527284.1:n.*186_*199dup
XM_011528980.3:c.*186_*199dup	XP_011527282.1:n.*186_*199dup
XM_011528981.3:c.*186_*199dup	XP_011527283.1:n.*186_*199dup
XM_017028013.2:c.*186_*199dup	XP_016883502.1:n.*186_*199dup
XM_017028014.2:c.*186_*199dup	XP_016883503.1:n.*186_*199dup
NM_022104.4:c.*186_*199dup MANE Select	NP_071387.1:n.*186_*199dup