Canonical Allele Identifier: CA1918455786

Gene: SGPL1 PCBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884099_70884100delinsAG , CM000672.2:g.70884099_70884100delinsAG	GRCh38
NC_000010.10:g.72643856_72643857delinsAG , CM000672.1:g.72643856_72643857delinsAG	GRCh37
NC_000010.9:g.72313862_72313863delinsAG	NCBI36
NG_008646.1:g.9685_9686delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9660_571-9659delinsAG (SGPL1)	ENSP00000513492.1:n.571-9660_571-9659delinsAG
ENST00000299299.4:c.217-52_217-51delinsCT (PCBD1) MANE Select	ENSP00000299299.3:n.217-52_217-51delinsCT
ENST00000299299.3:c.217-52_217-51delinsCT (PCBD1)	ENSP00000299299.3:n.217-52_217-51delinsCT
ENST00000493228.1:n.616-52_616-51delinsCT (PCBD1)
ENST00000493961.5:n.183+1052_183+1053delinsCT (PCBD1)
NM_000281.3:c.217-52_217-51delinsCT (PCBD1)	NP_000272.1:n.217-52_217-51delinsCT
NM_001289797.1:c.70-52_70-51delinsCT (PCBD1)	NP_001276726.1:n.70-52_70-51delinsCT
XM_005269877.1:c.216+1052_216+1053delinsCT (PCBD1)	XP_005269934.1:n.216+1052_216+1053delinsCT
NM_001323004.1:c.216+1052_216+1053delinsCT (PCBD1)	NP_001309933.1:n.216+1052_216+1053delinsCT
NM_000281.4:c.217-52_217-51delinsCT (PCBD1) MANE Select	NP_000272.1:n.217-52_217-51delinsCT
NM_001289797.2:c.70-52_70-51delinsCT (PCBD1)	NP_001276726.1:n.70-52_70-51delinsCT
NM_001323004.2:c.216+1052_216+1053delinsCT (PCBD1)	NP_001309933.1:n.216+1052_216+1053delinsCT