Canonical Allele Identifier: CA1187889113

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs1650951686

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108924149_108924152del , CM000663.2:g.108924149_108924152del	GRCh38
NC_000001.10:g.109466771_109466774del , CM000663.1:g.109466771_109466774del	GRCh37
NC_000001.9:g.109268294_109268297del	NCBI36
NG_028108.1:g.52169_52172del
NG_028108.2:g.53800_53803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+10474_*45+10477del (CLCC1)	ENSP00000510142.1:n.*45+10474_*45+10477del
ENST00000264126.9:c.1750_1753del (GPSM2) MANE Select	ENSP00000264126.3:p.His584Ter
ENST00000357393.6:c.-1+39210_-1+39213del (AKNAD1)	ENSP00000349968.6:n.-1+39210_-1+39213del
ENST00000441735.2:c.1750_1753del (GPSM2)	ENSP00000390629.2:p.His584Ter
ENST00000446797.2:c.1750_1753del (GPSM2)	ENSP00000392138.2:p.His584Ter
ENST00000642355.1:c.1750_1753del (GPSM2)	ENSP00000496104.1:p.His584Ter
ENST00000643643.1:c.839_842del (GPSM2)
ENST00000645164.2:c.1750_1753del (GPSM2)	ENSP00000496756.2:p.His584Ter
ENST00000674700.1:c.1543+1573_1543+1576del (GPSM2)	ENSP00000501743.1:n.1543+1573_1543+1576del
ENST00000674731.1:c.*467_*470del (GPSM2)	ENSP00000502401.1:n.*467_*470del
ENST00000674914.1:c.1801_1804del (GPSM2)	ENSP00000501579.1:p.His601Ter
ENST00000675086.1:c.1573_1576del (GPSM2)	ENSP00000502476.1:p.His525Ter
ENST00000675087.1:c.1801_1804del (GPSM2)	ENSP00000502020.1:p.His601Ter
ENST00000675740.1:n.1365_1368del (GPSM2)
ENST00000676184.1:c.1750_1753del (GPSM2)	ENSP00000502178.1:p.His584Ter
ENST00000676404.1:c.*656_*659del (GPSM2)	ENSP00000502346.1:n.*656_*659del
ENST00000264126.7:c.1750_1753del (GPSM2)	ENSP00000264126.3:p.His584Ter
ENST00000357393.5:c.114+39210_114+39213del	ENSP00000349968.5:n.114+39210_114+39213del
ENST00000406462.6:c.1750_1753del (GPSM2)	ENSP00000385510.1:p.His584Ter
ENST00000441735.1:c.519_522del (GPSM2)
NM_013296.4:c.1750_1753del (GPSM2)	NP_037428.3:p.His584Ter
XM_005270787.2:c.1750_1753del (GPSM2)	XP_005270844.1:p.His584Ter
XM_006710589.1:c.1693_1696del (GPSM2)	XP_006710652.1:p.His565Ter
XM_011541301.1:c.1750_1753del (GPSM2)	XP_011539603.1:p.His584Ter
XM_011541302.1:c.1750_1753del (GPSM2)	XP_011539604.1:p.His584Ter
NM_001321038.1:c.1750_1753del (GPSM2)	NP_001307967.1:p.His584Ter
NM_001321039.1:c.1750_1753del (GPSM2)	NP_001307968.1:p.His584Ter
XM_006710589.3:c.1693_1696del (GPSM2)	XP_006710652.1:p.His565Ter
XM_011541301.2:c.1750_1753del (GPSM2)	XP_011539603.1:p.His584Ter
XM_011541302.3:c.1750_1753del (GPSM2)	XP_011539604.1:p.His584Ter
XM_017001097.2:c.1750_1753del (GPSM2)	XP_016856586.1:p.His584Ter
XM_017001098.2:c.1750_1753del (GPSM2)	XP_016856587.1:p.His584Ter
NM_013296.5:c.1750_1753del (GPSM2) MANE Select	NP_037428.3:p.His584Ter
NM_001321038.2:c.1750_1753del (GPSM2)	NP_001307967.1:p.His584Ter
NM_001321039.2:c.1750_1753del (GPSM2)	NP_001307968.1:p.His584Ter
NM_001321039.3:c.1750_1753del (GPSM2)	NP_001307968.1:p.His584Ter