Canonical Allele Identifier: CA213046

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• ClinVar Variation Id: 35492
• ClinVar RCV Id: RCV000029164 ; RCV000223985 ; RCV000778933 ; RCV000844707
• dbSNP Id: rs528069912
• ExAC: 1:109441559 AC / A
• gnomAD v2: 1-109441559-AC-A
• gnomAD v3: 1-108898937-AC-A
• gnomAD v4: 1-108898937-AC-A
• MyVariant Identifiers: chr1:g.109441561del (hg19) ; chr1:g.109441560del (hg19) ; chr1:g.108898939del (hg38) ; chr1:g.108898938del (hg38)
• PubMed: PMID:22578326

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108898939del , CM000663.2:g.108898939del	GRCh38
NC_000001.10:g.109441561del , CM000663.1:g.109441561del	GRCh37
NC_000001.9:g.109243084del	NCBI36
NG_028108.1:g.26959del
NG_028108.2:g.28590del

Transcript Alleles

HGVS	Amino-acid change
ENST00000690509.1:c.*46-16690del (CLCC1)	ENSP00000510142.1:n.*46-16690del
ENST00000264126.9:c.742del (GPSM2) MANE Select	ENSP00000264126.3:p.Gly249GlufsTer?
ENST00000357393.6:c.1-49362del (AKNAD1)	ENSP00000349968.6:n.1-49362del
ENST00000441735.2:c.742del (GPSM2)	ENSP00000390629.2:p.Gly249GlufsTer?
ENST00000446797.2:c.742del (GPSM2)	ENSP00000392138.2:p.Gly249GlufsTer?
ENST00000642355.1:c.742del (GPSM2)	ENSP00000496104.1:p.Gly249GlufsTer?
ENST00000645164.2:c.742del (GPSM2)	ENSP00000496756.2:p.Gly249GlufsTer?
ENST00000645255.1:c.420del (GPSM2)
ENST00000674700.1:c.685del (GPSM2)	ENSP00000501743.1:p.Gly230GlufsTer?
ENST00000674731.1:c.685del (GPSM2)	ENSP00000502401.1:p.Gly230GlufsTer?
ENST00000674914.1:c.793del (GPSM2)	ENSP00000501579.1:p.Gly266GlufsTer?
ENST00000675086.1:c.742del (GPSM2)	ENSP00000502476.1:p.Gly249GlufsTer?
ENST00000675087.1:c.793del (GPSM2)	ENSP00000502020.1:p.Gly266GlufsTer?
ENST00000675617.1:n.1304del (GPSM2)
ENST00000675776.1:n.1237del (GPSM2)
ENST00000675829.1:n.1259del (GPSM2)
ENST00000676184.1:c.742del (GPSM2)	ENSP00000502178.1:p.Gly249GlufsTer?
ENST00000676404.1:c.685del (GPSM2)	ENSP00000502346.1:p.Gly230GlufsTer?
ENST00000264126.7:c.742del (GPSM2)	ENSP00000264126.3:p.Gly249GlufsTer?
ENST00000357393.5:c.115-49362del	ENSP00000349968.5:n.115-49362del
ENST00000406462.6:c.742del (GPSM2)	ENSP00000385510.1:p.Gly249GlufsTer?
NM_013296.4:c.742del (GPSM2)	NP_037428.3:p.Gly249GlufsTer?
XM_005270787.2:c.742del (GPSM2)	XP_005270844.1:p.Gly249GlufsTer?
XM_006710589.1:c.685del (GPSM2)	XP_006710652.1:p.Gly230GlufsTer?
XM_011541301.1:c.742del (GPSM2)	XP_011539603.1:p.Gly249GlufsTer?
XM_011541302.1:c.742del (GPSM2)	XP_011539604.1:p.Gly249GlufsTer?
XM_011541303.1:c.742del (GPSM2)	XP_011539605.1:p.Gly249GlufsTer?
NM_001321038.1:c.742del (GPSM2)	NP_001307967.1:p.Gly249GlufsTer?
NM_001321039.1:c.742del (GPSM2)	NP_001307968.1:p.Gly249GlufsTer?
XM_006710589.3:c.685del (GPSM2)	XP_006710652.1:p.Gly230GlufsTer?
XM_011541301.2:c.742del (GPSM2)	XP_011539603.1:p.Gly249GlufsTer?
XM_011541302.3:c.742del (GPSM2)	XP_011539604.1:p.Gly249GlufsTer?
XM_011541303.3:c.742del (GPSM2)	XP_011539605.1:p.Gly249GlufsTer?
XM_017001097.2:c.742del (GPSM2)	XP_016856586.1:p.Gly249GlufsTer?
XM_017001098.2:c.742del (GPSM2)	XP_016856587.1:p.Gly249GlufsTer?
NM_013296.5:c.742del (GPSM2) MANE Select	NP_037428.3:p.Gly249GlufsTer?
NM_001321038.2:c.742del (GPSM2)	NP_001307967.1:p.Gly249GlufsTer?
NM_001321039.2:c.742del (GPSM2)	NP_001307968.1:p.Gly249GlufsTer?
NM_001321039.3:c.742del (GPSM2)	NP_001307968.1:p.Gly249GlufsTer?