Canonical Allele Identifier: CA929737031

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs1846538636
• gnomAD v3: 10-70883948-GTC-G
• gnomAD v4: 10-70883948-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883950_70883951del , CM000672.2:g.70883950_70883951del	GRCh38
NC_000010.10:g.72643707_72643708del , CM000672.1:g.72643707_72643708del	GRCh37
NC_000010.9:g.72313713_72313714del	NCBI36
NG_008646.1:g.9835_9836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9809_571-9808del (SGPL1)	ENSP00000513492.1:n.571-9809_571-9808del
ENST00000299299.4:c.315_*1del (PCBD1) MANE Select	ENSP00000299299.3:n.[c.315_*1del;Ter105TyrextTer7]
ENST00000299299.3:c.315_*1del (PCBD1)	ENSP00000299299.3:n.[c.315_*1del;Ter105TyrextTer7]
ENST00000493228.1:n.714_715del (PCBD1)
ENST00000493961.5:n.183+1202_183+1203del (PCBD1)
NM_000281.3:c.315_*1del (PCBD1)	NP_000272.1:n.[c.315_*1del;Ter105TyrextTer7]
NM_001289797.1:c.168_*1del (PCBD1)	NP_001276726.1:n.[c.168_*1del;Ter56TyrextTer7]
XM_005269877.1:c.216+1202_216+1203del (PCBD1)	XP_005269934.1:n.216+1202_216+1203del
NM_001323004.1:c.216+1202_216+1203del (PCBD1)	NP_001309933.1:n.216+1202_216+1203del
NM_000281.4:c.315_*1del (PCBD1) MANE Select	NP_000272.1:n.[c.315_*1del;Ter105TyrextTer7]
NM_001289797.2:c.168_*1del (PCBD1)	NP_001276726.1:n.[c.168_*1del;Ter56TyrextTer7]
NM_001323004.2:c.216+1202_216+1203del (PCBD1)	NP_001309933.1:n.216+1202_216+1203del