Canonical Allele Identifier: CA594286938

Gene: SGPL1 PCBD1

Linked Data

• dbSNP Id: rs1426241570
• gnomAD v2: 10-72643837-GACTTC-G
• gnomAD v4: 10-70884080-GACTTC-G
• MyVariant Identifiers: chr10:g.72643838_72643842del (hg19) ; chr10:g.70884081_70884085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70884085_70884089del , CM000672.2:g.70884085_70884089del	GRCh38
NC_000010.10:g.72643842_72643846del , CM000672.1:g.72643842_72643846del	GRCh37
NC_000010.9:g.72313848_72313852del	NCBI36
NG_008646.1:g.9700_9704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697988.1:c.571-9674_571-9670del (SGPL1)	ENSP00000513492.1:n.571-9674_571-9670del
ENST00000299299.4:c.217-37_217-33del (PCBD1) MANE Select	ENSP00000299299.3:n.217-37_217-33del
ENST00000299299.3:c.217-37_217-33del (PCBD1)	ENSP00000299299.3:n.217-37_217-33del
ENST00000493228.1:n.616-37_616-33del (PCBD1)
ENST00000493961.5:n.183+1067_183+1071del (PCBD1)
NM_000281.3:c.217-37_217-33del (PCBD1)	NP_000272.1:n.217-37_217-33del
NM_001289797.1:c.70-37_70-33del (PCBD1)	NP_001276726.1:n.70-37_70-33del
XM_005269877.1:c.216+1067_216+1071del (PCBD1)	XP_005269934.1:n.216+1067_216+1071del
NM_001323004.1:c.216+1067_216+1071del (PCBD1)	NP_001309933.1:n.216+1067_216+1071del
NM_000281.4:c.217-37_217-33del (PCBD1) MANE Select	NP_000272.1:n.217-37_217-33del
NM_001289797.2:c.70-37_70-33del (PCBD1)	NP_001276726.1:n.70-37_70-33del
NM_001323004.2:c.216+1067_216+1071del (PCBD1)	NP_001309933.1:n.216+1067_216+1071del