Canonical Allele Identifier: CA2683548868

Gene: PCLO

Linked Data

• gnomAD v4: 7-82824403-AAATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824411_82824414del , CM000669.2:g.82824411_82824414del	GRCh38
NC_000007.13:g.82453727_82453730del , CM000669.1:g.82453727_82453730del	GRCh37
NC_000007.12:g.82291663_82291666del	NCBI36
NG_047145.1:g.343475_343478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333891.14:c.14425_14428del MANE Select	ENSP00000334319.8:p.Asp4809TyrfsTer?
ENST00000333891.13:c.14425_14428del	ENSP00000334319.8:p.Asp4809TyrfsTer?
ENST00000423517.6:c.14425_14428del	ENSP00000388393.2:p.Asp4809TyrfsTer?
ENST00000426442.6:n.920_923del
ENST00000618073.1:c.688_691del	ENSP00000482390.1:p.Asp230TyrfsTer?
NM_014510.2:c.14425_14428del	NP_055325.2:p.Asp4809TyrfsTer?
NM_033026.5:c.14425_14428del	NP_149015.2:p.Asp4809TyrfsTer?
XM_017012006.2:c.7330_7333del	XP_016867495.1:p.Asp2444TyrfsTer?
XM_017012007.1:c.7303_7306del	XP_016867496.1:p.Asp2435TyrfsTer?
XR_001744643.2:n.15994_15997del
NM_033026.6:c.14425_14428del MANE Select	NP_149015.2:p.Asp4809TyrfsTer?
NM_014510.3:c.14425_14428del	NP_055325.2:p.Asp4809TyrfsTer?