Canonical Allele Identifier: CA2646884941

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs2101543253
• gnomAD v4: 1-108922548-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108922549_108922551del , CM000663.2:g.108922549_108922551del	GRCh38
NC_000001.10:g.109465171_109465173del , CM000663.1:g.109465171_109465173del	GRCh37
NC_000001.9:g.109266694_109266696del	NCBI36
NG_028108.1:g.50569_50571del
NG_028108.2:g.52200_52202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+12074_*45+12076del (CLCC1)	ENSP00000510142.1:n.*45+12074_*45+12076del
ENST00000264126.9:c.1573_1575del (GPSM2) MANE Select	ENSP00000264126.3:p.Ser525del
ENST00000357393.6:c.-1+40810_-1+40812del (AKNAD1)	ENSP00000349968.6:n.-1+40810_-1+40812del
ENST00000441735.2:c.1573_1575del (GPSM2)	ENSP00000390629.2:p.Ser525del
ENST00000446797.2:c.1573_1575del (GPSM2)	ENSP00000392138.2:p.Ser525del
ENST00000642355.1:c.1573_1575del (GPSM2)	ENSP00000496104.1:p.Ser525del
ENST00000643643.1:c.662_664del (GPSM2)
ENST00000645164.2:c.1573_1575del (GPSM2)	ENSP00000496756.2:p.Ser525del
ENST00000674700.1:c.1516_1518del (GPSM2)	ENSP00000501743.1:p.Ser506del
ENST00000674731.1:c.*290_*292del (GPSM2)	ENSP00000502401.1:n.*290_*292del
ENST00000674914.1:c.1624_1626del (GPSM2)	ENSP00000501579.1:p.Ser542del
ENST00000675086.1:c.1396_1398del (GPSM2)	ENSP00000502476.1:p.Ser466del
ENST00000675087.1:c.1624_1626del (GPSM2)	ENSP00000502020.1:p.Ser542del
ENST00000675740.1:n.1216-1451_1216-1449del (GPSM2)
ENST00000676184.1:c.1573_1575del (GPSM2)	ENSP00000502178.1:p.Ser525del
ENST00000676404.1:c.*479_*481del (GPSM2)	ENSP00000502346.1:n.*479_*481del
ENST00000264126.7:c.1573_1575del (GPSM2)	ENSP00000264126.3:p.Ser525del
ENST00000357393.5:c.114+40810_114+40812del	ENSP00000349968.5:n.114+40810_114+40812del
ENST00000406462.6:c.1573_1575del (GPSM2)	ENSP00000385510.1:p.Ser525del
ENST00000441735.1:c.342_344del (GPSM2)
NM_013296.4:c.1573_1575del (GPSM2)	NP_037428.3:p.Ser525del
XM_005270787.2:c.1573_1575del (GPSM2)	XP_005270844.1:p.Ser525del
XM_006710589.1:c.1516_1518del (GPSM2)	XP_006710652.1:p.Ser506del
XM_011541301.1:c.1573_1575del (GPSM2)	XP_011539603.1:p.Ser525del
XM_011541302.1:c.1573_1575del (GPSM2)	XP_011539604.1:p.Ser525del
NM_001321038.1:c.1573_1575del (GPSM2)	NP_001307967.1:p.Ser525del
NM_001321039.1:c.1573_1575del (GPSM2)	NP_001307968.1:p.Ser525del
XM_006710589.3:c.1516_1518del (GPSM2)	XP_006710652.1:p.Ser506del
XM_011541301.2:c.1573_1575del (GPSM2)	XP_011539603.1:p.Ser525del
XM_011541302.3:c.1573_1575del (GPSM2)	XP_011539604.1:p.Ser525del
XM_017001097.2:c.1573_1575del (GPSM2)	XP_016856586.1:p.Ser525del
XM_017001098.2:c.1573_1575del (GPSM2)	XP_016856587.1:p.Ser525del
NM_013296.5:c.1573_1575del (GPSM2) MANE Select	NP_037428.3:p.Ser525del
NM_001321038.2:c.1573_1575del (GPSM2)	NP_001307967.1:p.Ser525del
NM_001321039.2:c.1573_1575del (GPSM2)	NP_001307968.1:p.Ser525del
NM_001321039.3:c.1573_1575del (GPSM2)	NP_001307968.1:p.Ser525del