Canonical Allele Identifier: CA2573051333

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• ClinVar Variation Id: 1324511
• ClinVar RCV Id: RCV001782231
• dbSNP Id: rs2101542489

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108922449_108922450delinsAACC , CM000663.2:g.108922449_108922450delinsAACC	GRCh38
NC_000001.10:g.109465071_109465072delinsAACC , CM000663.1:g.109465071_109465072delinsAACC	GRCh37
NC_000001.9:g.109266594_109266595delinsAACC	NCBI36
NG_028108.1:g.50469_50470delinsAACC
NG_028108.2:g.52100_52101delinsAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+12175_*45+12176delinsGGTT (CLCC1)	ENSP00000510142.1:n.*45+12175_*45+12176delinsGGTT
ENST00000264126.9:c.1473_1474delinsAACC (GPSM2) MANE Select	ENSP00000264126.3:p.Phe492ThrfsTer6
ENST00000357393.6:c.-1+40911_-1+40912delinsGGTT (AKNAD1)	ENSP00000349968.6:n.-1+40911_-1+40912delinsGGTT
ENST00000441735.2:c.1473_1474delinsAACC (GPSM2)	ENSP00000390629.2:p.Phe492ThrfsTer6
ENST00000446797.2:c.1473_1474delinsAACC (GPSM2)	ENSP00000392138.2:p.Phe492ThrfsTer6
ENST00000642355.1:c.1473_1474delinsAACC (GPSM2)	ENSP00000496104.1:p.Phe492ThrfsTer6
ENST00000643643.1:c.562_563delinsAACC (GPSM2)
ENST00000645164.2:c.1473_1474delinsAACC (GPSM2)	ENSP00000496756.2:p.Phe492ThrfsTer6
ENST00000674700.1:c.1416_1417delinsAACC (GPSM2)	ENSP00000501743.1:p.Phe473ThrfsTer6
ENST00000674731.1:c.*190_*191delinsAACC (GPSM2)	ENSP00000502401.1:n.*190_*191delinsAACC
ENST00000674914.1:c.1524_1525delinsAACC (GPSM2)	ENSP00000501579.1:p.Phe509ThrfsTer6
ENST00000675086.1:c.1296_1297delinsAACC (GPSM2)	ENSP00000502476.1:p.Phe433ThrfsTer6
ENST00000675087.1:c.1524_1525delinsAACC (GPSM2)	ENSP00000502020.1:p.Phe509ThrfsTer6
ENST00000675740.1:n.1216-1551_1216-1550delinsAACC (GPSM2)
ENST00000676184.1:c.1473_1474delinsAACC (GPSM2)	ENSP00000502178.1:p.Phe492ThrfsTer6
ENST00000676404.1:c.*379_*380delinsAACC (GPSM2)	ENSP00000502346.1:n.*379_*380delinsAACC
ENST00000264126.7:c.1473_1474delinsAACC (GPSM2)	ENSP00000264126.3:p.Phe492ThrfsTer6
ENST00000357393.5:c.114+40911_114+40912delinsGGTT	ENSP00000349968.5:n.114+40911_114+40912delinsGGTT
ENST00000406462.6:c.1473_1474delinsAACC (GPSM2)	ENSP00000385510.1:p.Phe492ThrfsTer6
ENST00000441735.1:c.242_243delinsAACC (GPSM2)
NM_013296.4:c.1473_1474delinsAACC (GPSM2)	NP_037428.3:p.Phe492ThrfsTer6
XM_005270787.2:c.1473_1474delinsAACC (GPSM2)	XP_005270844.1:p.Phe492ThrfsTer6
XM_006710589.1:c.1416_1417delinsAACC (GPSM2)	XP_006710652.1:p.Phe473ThrfsTer6
XM_011541301.1:c.1473_1474delinsAACC (GPSM2)	XP_011539603.1:p.Phe492ThrfsTer6
XM_011541302.1:c.1473_1474delinsAACC (GPSM2)	XP_011539604.1:p.Phe492ThrfsTer6
NM_001321038.1:c.1473_1474delinsAACC (GPSM2)	NP_001307967.1:p.Phe492ThrfsTer6
NM_001321039.1:c.1473_1474delinsAACC (GPSM2)	NP_001307968.1:p.Phe492ThrfsTer6
XM_006710589.3:c.1416_1417delinsAACC (GPSM2)	XP_006710652.1:p.Phe473ThrfsTer6
XM_011541301.2:c.1473_1474delinsAACC (GPSM2)	XP_011539603.1:p.Phe492ThrfsTer6
XM_011541302.3:c.1473_1474delinsAACC (GPSM2)	XP_011539604.1:p.Phe492ThrfsTer6
XM_017001097.2:c.1473_1474delinsAACC (GPSM2)	XP_016856586.1:p.Phe492ThrfsTer6
XM_017001098.2:c.1473_1474delinsAACC (GPSM2)	XP_016856587.1:p.Phe492ThrfsTer6
NM_013296.5:c.1473_1474delinsAACC (GPSM2) MANE Select	NP_037428.3:p.Phe492ThrfsTer6
NM_001321038.2:c.1473_1474delinsAACC (GPSM2)	NP_001307967.1:p.Phe492ThrfsTer6
NM_001321039.2:c.1473_1474delinsAACC (GPSM2)	NP_001307968.1:p.Phe492ThrfsTer6
NM_001321039.3:c.1473_1474delinsAACC (GPSM2)	NP_001307968.1:p.Phe492ThrfsTer6