Canonical Allele Identifier: CA983090

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• ClinVar Variation Id: 226649
• ClinVar RCV Id: RCV000218159 ; RCV000270361 ; RCV000711834 ; RCV001701798
• dbSNP Id: rs35029887
• ExAC: 1:109465165 ACTT / A
• gnomAD v2: 1-109465165-ACTT-A
• gnomAD v3: 1-108922543-ACTT-A
• gnomAD v4: 1-108922543-ACTT-A
• COSMIC: COSM5713033
• MyVariant Identifiers: chr1:g.109465170_109465172del (hg19) ; chr1:g.109465166_109465168del (hg19) ; chr1:g.108922548_108922550del (hg38) ; chr1:g.108922545_108922547del (hg38) ; chr1:g.108922544_108922546del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108922548_108922550del , CM000663.2:g.108922548_108922550del	GRCh38
NC_000001.10:g.109465170_109465172del , CM000663.1:g.109465170_109465172del	GRCh37
NC_000001.9:g.109266693_109266695del	NCBI36
NG_028108.1:g.50568_50570del
NG_028108.2:g.52199_52201del

Transcript Alleles

HGVS	Amino-acid change
ENST00000690509.1:c.*45+12079_*45+12081del (CLCC1)	ENSP00000510142.1:n.*45+12079_*45+12081del
ENST00000264126.9:c.1572_1574del (GPSM2) MANE Select	ENSP00000264126.3:p.Ser525del
ENST00000357393.6:c.-1+40815_-1+40817del (AKNAD1)	ENSP00000349968.6:n.-1+40815_-1+40817del
ENST00000441735.2:c.1572_1574del (GPSM2)	ENSP00000390629.2:p.Ser525del
ENST00000446797.2:c.1572_1574del (GPSM2)	ENSP00000392138.2:p.Ser525del
ENST00000642355.1:c.1572_1574del (GPSM2)	ENSP00000496104.1:p.Ser525del
ENST00000643643.1:c.661_663del (GPSM2)
ENST00000645164.2:c.1572_1574del (GPSM2)	ENSP00000496756.2:p.Ser525del
ENST00000674700.1:c.1515_1517del (GPSM2)	ENSP00000501743.1:p.Ser506del
ENST00000674731.1:c.*289_*291del (GPSM2)	ENSP00000502401.1:n.*289_*291del
ENST00000674914.1:c.1623_1625del (GPSM2)	ENSP00000501579.1:p.Ser542del
ENST00000675086.1:c.1395_1397del (GPSM2)	ENSP00000502476.1:p.Ser466del
ENST00000675087.1:c.1623_1625del (GPSM2)	ENSP00000502020.1:p.Ser542del
ENST00000675740.1:n.1216-1452_1216-1450del (GPSM2)
ENST00000676184.1:c.1572_1574del (GPSM2)	ENSP00000502178.1:p.Ser525del
ENST00000676404.1:c.*478_*480del (GPSM2)	ENSP00000502346.1:n.*478_*480del
ENST00000264126.7:c.1572_1574del (GPSM2)	ENSP00000264126.3:p.Ser525del
ENST00000357393.5:c.114+40815_114+40817del	ENSP00000349968.5:n.114+40815_114+40817del
ENST00000406462.6:c.1572_1574del (GPSM2)	ENSP00000385510.1:p.Ser525del
ENST00000441735.1:c.341_343del (GPSM2)
NM_013296.4:c.1572_1574del (GPSM2)	NP_037428.3:p.Ser525del
XM_005270787.2:c.1572_1574del (GPSM2)	XP_005270844.1:p.Ser525del
XM_006710589.1:c.1515_1517del (GPSM2)	XP_006710652.1:p.Ser506del
XM_011541301.1:c.1572_1574del (GPSM2)	XP_011539603.1:p.Ser525del
XM_011541302.1:c.1572_1574del (GPSM2)	XP_011539604.1:p.Ser525del
NM_001321038.1:c.1572_1574del (GPSM2)	NP_001307967.1:p.Ser525del
NM_001321039.1:c.1572_1574del (GPSM2)	NP_001307968.1:p.Ser525del
XM_006710589.3:c.1515_1517del (GPSM2)	XP_006710652.1:p.Ser506del
XM_011541301.2:c.1572_1574del (GPSM2)	XP_011539603.1:p.Ser525del
XM_011541302.3:c.1572_1574del (GPSM2)	XP_011539604.1:p.Ser525del
XM_017001097.2:c.1572_1574del (GPSM2)	XP_016856586.1:p.Ser525del
XM_017001098.2:c.1572_1574del (GPSM2)	XP_016856587.1:p.Ser525del
NM_013296.5:c.1572_1574del (GPSM2) MANE Select	NP_037428.3:p.Ser525del
NM_001321038.2:c.1572_1574del (GPSM2)	NP_001307967.1:p.Ser525del
NM_001321039.2:c.1572_1574del (GPSM2)	NP_001307968.1:p.Ser525del
NM_001321039.3:c.1572_1574del (GPSM2)	NP_001307968.1:p.Ser525del