Canonical Allele Identifier: CA2695199546

Gene: SGPL1 PCBD1

Linked Data

• ClinVar Variation Id: 2640562
• ClinVar RCV Id: RCV003417476

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884011_70884013delinsCACCCATGGTGAGCAC , CM000672.2:g.70884011_70884013delinsCACCCATGGTGAGCAC	GRCh38
NC_000010.10:g.72643768_72643770delinsCACCCATGGTGAGCAC , CM000672.1:g.72643768_72643770delinsCACCCATGGTGAGCAC	GRCh37
NC_000010.9:g.72313774_72313776delinsCACCCATGGTGAGCAC	NCBI36
NG_008646.1:g.9772_9774delinsGTGCTCACCATGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9748_571-9746delinsCACCCATGGTGAGCAC (SGPL1)	ENSP00000513492.1:n.571-9748_571-9746delinsCACCCATGGTGAGCAC
ENST00000299299.4:c.252_254delinsGTGCTCACCATGGGTG (PCBD1) MANE Select	ENSP00000299299.3:p.Leu85CysfsTer32
ENST00000299299.3:c.252_254delinsGTGCTCACCATGGGTG (PCBD1)	ENSP00000299299.3:p.Leu85CysfsTer32
ENST00000493228.1:n.651_653delinsGTGCTCACCATGGGTG (PCBD1)
ENST00000493961.5:n.183+1139_183+1141delinsGTGCTCACCATGGGTG (PCBD1)
NM_000281.3:c.252_254delinsGTGCTCACCATGGGTG (PCBD1)	NP_000272.1:p.Leu85CysfsTer32
NM_001289797.1:c.105_107delinsGTGCTCACCATGGGTG (PCBD1)	NP_001276726.1:p.Leu36CysfsTer32
XM_005269877.1:c.216+1139_216+1141delinsGTGCTCACCATGGGTG (PCBD1)	XP_005269934.1:n.216+1139_216+1141delinsGTGCTCACCATGGGTG
NM_001323004.1:c.216+1139_216+1141delinsGTGCTCACCATGGGTG (PCBD1)	NP_001309933.1:n.216+1139_216+1141delinsGTGCTCACCATGGGTG
NM_000281.4:c.252_254delinsGTGCTCACCATGGGTG (PCBD1) MANE Select	NP_000272.1:p.Leu85CysfsTer32
NM_001289797.2:c.105_107delinsGTGCTCACCATGGGTG (PCBD1)	NP_001276726.1:p.Leu36CysfsTer32
NM_001323004.2:c.216+1139_216+1141delinsGTGCTCACCATGGGTG (PCBD1)	NP_001309933.1:n.216+1139_216+1141delinsGTGCTCACCATGGGTG