Canonical Allele Identifier: CA1918455718

Gene: SGPL1 PCBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70883948_70883950delinsGTC , CM000672.2:g.70883948_70883950delinsGTC	GRCh38
NC_000010.10:g.72643705_72643707delinsGTC , CM000672.1:g.72643705_72643707delinsGTC	GRCh37
NC_000010.9:g.72313711_72313713delinsGTC	NCBI36
NG_008646.1:g.9835_9837delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9811_571-9809delinsGTC (SGPL1)	ENSP00000513492.1:n.571-9811_571-9809delinsGTC
ENST00000299299.4:c.315_*2delinsGAC (PCBD1) MANE Select	ENSP00000299299.3:n.[c.315_*2delinsGAC;Ter105=]
ENST00000299299.3:c.315_*2delinsGAC (PCBD1)	ENSP00000299299.3:n.[c.315_*2delinsGAC;Ter105=]
ENST00000493228.1:n.714_716delinsGAC (PCBD1)
ENST00000493961.5:n.183+1202_183+1204delinsGAC (PCBD1)
NM_000281.3:c.315_*2delinsGAC (PCBD1)	NP_000272.1:n.[c.315_*2delinsGAC;Ter105=]
NM_001289797.1:c.168_*2delinsGAC (PCBD1)	NP_001276726.1:n.[c.168_*2delinsGAC;Ter56=]
XM_005269877.1:c.216+1202_216+1204delinsGAC (PCBD1)	XP_005269934.1:n.216+1202_216+1204delinsGAC
NM_001323004.1:c.216+1202_216+1204delinsGAC (PCBD1)	NP_001309933.1:n.216+1202_216+1204delinsGAC
NM_000281.4:c.315_*2delinsGAC (PCBD1) MANE Select	NP_000272.1:n.[c.315_*2delinsGAC;Ter105=]
NM_001289797.2:c.168_*2delinsGAC (PCBD1)	NP_001276726.1:n.[c.168_*2delinsGAC;Ter56=]
NM_001323004.2:c.216+1202_216+1204delinsGAC (PCBD1)	NP_001309933.1:n.216+1202_216+1204delinsGAC