Canonical Allele Identifier: CA2609539211

Gene: SGPL1 PCBD1

Linked Data

• gnomAD v4: 10-70884024-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884025_70884026del , CM000672.2:g.70884025_70884026del	GRCh38
NC_000010.10:g.72643782_72643783del , CM000672.1:g.72643782_72643783del	GRCh37
NC_000010.9:g.72313788_72313789del	NCBI36
NG_008646.1:g.9759_9760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9734_571-9733del (SGPL1)	ENSP00000513492.1:n.571-9734_571-9733del
ENST00000299299.4:c.239_240del (PCBD1) MANE Select	ENSP00000299299.3:p.His80ArgfsTer?
ENST00000299299.3:c.239_240del (PCBD1)	ENSP00000299299.3:p.His80ArgfsTer?
ENST00000493228.1:n.638_639del (PCBD1)
ENST00000493961.5:n.183+1126_183+1127del (PCBD1)
NM_000281.3:c.239_240del (PCBD1)	NP_000272.1:p.His80ArgfsTer?
NM_001289797.1:c.92_93del (PCBD1)	NP_001276726.1:p.His31ArgfsTer?
XM_005269877.1:c.216+1126_216+1127del (PCBD1)	XP_005269934.1:n.216+1126_216+1127del
NM_001323004.1:c.216+1126_216+1127del (PCBD1)	NP_001309933.1:n.216+1126_216+1127del
NM_000281.4:c.239_240del (PCBD1) MANE Select	NP_000272.1:p.His80ArgfsTer?
NM_001289797.2:c.92_93del (PCBD1)	NP_001276726.1:p.His31ArgfsTer?
NM_001323004.2:c.216+1126_216+1127del (PCBD1)	NP_001309933.1:n.216+1126_216+1127del