Canonical Allele Identifier: CA2573883899

Gene: CLCC1 GPSM2 AKNAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108924138_108924139del , CM000663.2:g.108924138_108924139del	GRCh38
NC_000001.10:g.109466760_109466761del , CM000663.1:g.109466760_109466761del	GRCh37
NC_000001.9:g.109268283_109268284del	NCBI36
NG_028108.1:g.52158_52159del
NG_028108.2:g.53789_53790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+10486_*45+10487del (CLCC1)	ENSP00000510142.1:n.*45+10486_*45+10487del
ENST00000264126.9:c.1739_1740del (GPSM2) MANE Select	ENSP00000264126.3:p.Ser580CysfsTer3
ENST00000357393.6:c.-1+39222_-1+39223del (AKNAD1)	ENSP00000349968.6:n.-1+39222_-1+39223del
ENST00000441735.2:c.1739_1740del (GPSM2)	ENSP00000390629.2:p.Ser580CysfsTer3
ENST00000446797.2:c.1739_1740del (GPSM2)	ENSP00000392138.2:p.Ser580CysfsTer3
ENST00000642355.1:c.1739_1740del (GPSM2)	ENSP00000496104.1:p.Ser580CysfsTer3
ENST00000643643.1:c.828_829del (GPSM2)
ENST00000645164.2:c.1739_1740del (GPSM2)	ENSP00000496756.2:p.Ser580CysfsTer3
ENST00000674700.1:c.1543+1562_1543+1563del (GPSM2)	ENSP00000501743.1:n.1543+1562_1543+1563del
ENST00000674731.1:c.*456_*457del (GPSM2)	ENSP00000502401.1:n.*456_*457del
ENST00000674914.1:c.1790_1791del (GPSM2)	ENSP00000501579.1:p.Ser597CysfsTer3
ENST00000675086.1:c.1562_1563del (GPSM2)	ENSP00000502476.1:p.Ser521CysfsTer3
ENST00000675087.1:c.1790_1791del (GPSM2)	ENSP00000502020.1:p.Ser597CysfsTer3
ENST00000675740.1:n.1354_1355del (GPSM2)
ENST00000676184.1:c.1739_1740del (GPSM2)	ENSP00000502178.1:p.Ser580CysfsTer3
ENST00000676404.1:c.*645_*646del (GPSM2)	ENSP00000502346.1:n.*645_*646del
ENST00000264126.7:c.1739_1740del (GPSM2)	ENSP00000264126.3:p.Ser580CysfsTer3
ENST00000357393.5:c.114+39222_114+39223del	ENSP00000349968.5:n.114+39222_114+39223del
ENST00000406462.6:c.1739_1740del (GPSM2)	ENSP00000385510.1:p.Ser580CysfsTer3
ENST00000441735.1:c.508_509del (GPSM2)
NM_013296.4:c.1739_1740del (GPSM2)	NP_037428.3:p.Ser580CysfsTer3
XM_005270787.2:c.1739_1740del (GPSM2)	XP_005270844.1:p.Ser580CysfsTer3
XM_006710589.1:c.1682_1683del (GPSM2)	XP_006710652.1:p.Ser561CysfsTer3
XM_011541301.1:c.1739_1740del (GPSM2)	XP_011539603.1:p.Ser580CysfsTer3
XM_011541302.1:c.1739_1740del (GPSM2)	XP_011539604.1:p.Ser580CysfsTer3
NM_001321038.1:c.1739_1740del (GPSM2)	NP_001307967.1:p.Ser580CysfsTer3
NM_001321039.1:c.1739_1740del (GPSM2)	NP_001307968.1:p.Ser580CysfsTer3
XM_006710589.3:c.1682_1683del (GPSM2)	XP_006710652.1:p.Ser561CysfsTer3
XM_011541301.2:c.1739_1740del (GPSM2)	XP_011539603.1:p.Ser580CysfsTer3
XM_011541302.3:c.1739_1740del (GPSM2)	XP_011539604.1:p.Ser580CysfsTer3
XM_017001097.2:c.1739_1740del (GPSM2)	XP_016856586.1:p.Ser580CysfsTer3
XM_017001098.2:c.1739_1740del (GPSM2)	XP_016856587.1:p.Ser580CysfsTer3
NM_013296.5:c.1739_1740del (GPSM2) MANE Select	NP_037428.3:p.Ser580CysfsTer3
NM_001321038.2:c.1739_1740del (GPSM2)	NP_001307967.1:p.Ser580CysfsTer3
NM_001321039.2:c.1739_1740del (GPSM2)	NP_001307968.1:p.Ser580CysfsTer3
NM_001321039.3:c.1739_1740del (GPSM2)	NP_001307968.1:p.Ser580CysfsTer3