Canonical Allele Identifier: CA929737093

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs1846541561
• gnomAD v3: 10-70884011-A-ACCCAT
• gnomAD v4: 10-70884011-A-ACCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884011_70884012insCCCAT , CM000672.2:g.70884011_70884012insCCCAT	GRCh38
NC_000010.10:g.72643768_72643769insCCCAT , CM000672.1:g.72643768_72643769insCCCAT	GRCh37
NC_000010.9:g.72313774_72313775insCCCAT	NCBI36
NG_008646.1:g.9773_9774insATGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9748_571-9747insCCCAT (SGPL1)	ENSP00000513492.1:n.571-9748_571-9747insCCCAT
ENST00000299299.4:c.253_254insATGGG (PCBD1) MANE Select	ENSP00000299299.3:p.Leu85HisfsTer8
ENST00000299299.3:c.253_254insATGGG (PCBD1)	ENSP00000299299.3:p.Leu85HisfsTer8
ENST00000493228.1:n.652_653insATGGG (PCBD1)
ENST00000493961.5:n.183+1140_183+1141insATGGG (PCBD1)
NM_000281.3:c.253_254insATGGG (PCBD1)	NP_000272.1:p.Leu85HisfsTer8
NM_001289797.1:c.106_107insATGGG (PCBD1)	NP_001276726.1:p.Leu36HisfsTer8
XM_005269877.1:c.216+1140_216+1141insATGGG (PCBD1)	XP_005269934.1:n.216+1140_216+1141insATGGG
NM_001323004.1:c.216+1140_216+1141insATGGG (PCBD1)	NP_001309933.1:n.216+1140_216+1141insATGGG
NM_000281.4:c.253_254insATGGG (PCBD1) MANE Select	NP_000272.1:p.Leu85HisfsTer8
NM_001289797.2:c.106_107insATGGG (PCBD1)	NP_001276726.1:p.Leu36HisfsTer8
NM_001323004.2:c.216+1140_216+1141insATGGG (PCBD1)	NP_001309933.1:n.216+1140_216+1141insATGGG