Canonical Allele Identifier: CA1187888433

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs1650790849

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108922543_108922545del , CM000663.2:g.108922543_108922545del	GRCh38
NC_000001.10:g.109465165_109465167del , CM000663.1:g.109465165_109465167del	GRCh37
NC_000001.9:g.109266688_109266690del	NCBI36
NG_028108.1:g.50563_50565del
NG_028108.2:g.52194_52196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+12080_*45+12082del (CLCC1)	ENSP00000510142.1:n.*45+12080_*45+12082del
ENST00000264126.9:c.1567_1569del (GPSM2) MANE Select	ENSP00000264126.3:p.Thr523del
ENST00000357393.6:c.-1+40816_-1+40818del (AKNAD1)	ENSP00000349968.6:n.-1+40816_-1+40818del
ENST00000441735.2:c.1567_1569del (GPSM2)	ENSP00000390629.2:p.Thr523del
ENST00000446797.2:c.1567_1569del (GPSM2)	ENSP00000392138.2:p.Thr523del
ENST00000642355.1:c.1567_1569del (GPSM2)	ENSP00000496104.1:p.Thr523del
ENST00000643643.1:c.656_658del (GPSM2)
ENST00000645164.2:c.1567_1569del (GPSM2)	ENSP00000496756.2:p.Thr523del
ENST00000674700.1:c.1510_1512del (GPSM2)	ENSP00000501743.1:p.Thr504del
ENST00000674731.1:c.*284_*286del (GPSM2)	ENSP00000502401.1:n.*284_*286del
ENST00000674914.1:c.1618_1620del (GPSM2)	ENSP00000501579.1:p.Thr540del
ENST00000675086.1:c.1390_1392del (GPSM2)	ENSP00000502476.1:p.Thr464del
ENST00000675087.1:c.1618_1620del (GPSM2)	ENSP00000502020.1:p.Thr540del
ENST00000675740.1:n.1216-1457_1216-1455del (GPSM2)
ENST00000676184.1:c.1567_1569del (GPSM2)	ENSP00000502178.1:p.Thr523del
ENST00000676404.1:c.*473_*475del (GPSM2)	ENSP00000502346.1:n.*473_*475del
ENST00000264126.7:c.1567_1569del (GPSM2)	ENSP00000264126.3:p.Thr523del
ENST00000357393.5:c.114+40816_114+40818del	ENSP00000349968.5:n.114+40816_114+40818del
ENST00000406462.6:c.1567_1569del (GPSM2)	ENSP00000385510.1:p.Thr523del
ENST00000441735.1:c.336_338del (GPSM2)
NM_013296.4:c.1567_1569del (GPSM2)	NP_037428.3:p.Thr523del
XM_005270787.2:c.1567_1569del (GPSM2)	XP_005270844.1:p.Thr523del
XM_006710589.1:c.1510_1512del (GPSM2)	XP_006710652.1:p.Thr504del
XM_011541301.1:c.1567_1569del (GPSM2)	XP_011539603.1:p.Thr523del
XM_011541302.1:c.1567_1569del (GPSM2)	XP_011539604.1:p.Thr523del
NM_001321038.1:c.1567_1569del (GPSM2)	NP_001307967.1:p.Thr523del
NM_001321039.1:c.1567_1569del (GPSM2)	NP_001307968.1:p.Thr523del
XM_006710589.3:c.1510_1512del (GPSM2)	XP_006710652.1:p.Thr504del
XM_011541301.2:c.1567_1569del (GPSM2)	XP_011539603.1:p.Thr523del
XM_011541302.3:c.1567_1569del (GPSM2)	XP_011539604.1:p.Thr523del
XM_017001097.2:c.1567_1569del (GPSM2)	XP_016856586.1:p.Thr523del
XM_017001098.2:c.1567_1569del (GPSM2)	XP_016856587.1:p.Thr523del
NM_013296.5:c.1567_1569del (GPSM2) MANE Select	NP_037428.3:p.Thr523del
NM_001321038.2:c.1567_1569del (GPSM2)	NP_001307967.1:p.Thr523del
NM_001321039.2:c.1567_1569del (GPSM2)	NP_001307968.1:p.Thr523del
NM_001321039.3:c.1567_1569del (GPSM2)	NP_001307968.1:p.Thr523del