Canonical Allele Identifier: CA525625101

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs1164229534
• gnomAD v2: 1-109466715-GTTTCAGTAA-G
• gnomAD v3: 1-108924093-GTTTCAGTAA-G
• gnomAD v4: 1-108924093-GTTTCAGTAA-G
• MyVariant Identifiers: chr1:g.109466716_109466724del (hg19) ; chr1:g.108924094_108924102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108924097_108924105del , CM000663.2:g.108924097_108924105del	GRCh38
NC_000001.10:g.109466719_109466727del , CM000663.1:g.109466719_109466727del	GRCh37
NC_000001.9:g.109268242_109268250del	NCBI36
NG_028108.1:g.52117_52125del
NG_028108.2:g.53748_53756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+10523_*45+10531del (CLCC1)	ENSP00000510142.1:n.*45+10523_*45+10531del
ENST00000264126.9:c.1698_1706del (GPSM2) MANE Select	ENSP00000264126.3:p.Phe566_Asn568del
ENST00000357393.6:c.-1+39259_-1+39267del (AKNAD1)	ENSP00000349968.6:n.-1+39259_-1+39267del
ENST00000441735.2:c.1698_1706del (GPSM2)	ENSP00000390629.2:p.Phe566_Asn568del
ENST00000446797.2:c.1698_1706del (GPSM2)	ENSP00000392138.2:p.Phe566_Asn568del
ENST00000642355.1:c.1698_1706del (GPSM2)	ENSP00000496104.1:p.Phe566_Asn568del
ENST00000643643.1:c.787_795del (GPSM2)
ENST00000645164.2:c.1698_1706del (GPSM2)	ENSP00000496756.2:p.Phe566_Asn568del
ENST00000674700.1:c.1543+1521_1543+1529del (GPSM2)	ENSP00000501743.1:n.1543+1521_1543+1529del
ENST00000674731.1:c.*415_*423del (GPSM2)	ENSP00000502401.1:n.*415_*423del
ENST00000674914.1:c.1749_1757del (GPSM2)	ENSP00000501579.1:p.Phe583_Asn585del
ENST00000675086.1:c.1521_1529del (GPSM2)	ENSP00000502476.1:p.Phe507_Asn509del
ENST00000675087.1:c.1749_1757del (GPSM2)	ENSP00000502020.1:p.Phe583_Asn585del
ENST00000675740.1:n.1313_1321del (GPSM2)
ENST00000676184.1:c.1698_1706del (GPSM2)	ENSP00000502178.1:p.Phe566_Asn568del
ENST00000676404.1:c.*604_*612del (GPSM2)	ENSP00000502346.1:n.*604_*612del
ENST00000264126.7:c.1698_1706del (GPSM2)	ENSP00000264126.3:p.Phe566_Asn568del
ENST00000357393.5:c.114+39259_114+39267del	ENSP00000349968.5:n.114+39259_114+39267del
ENST00000406462.6:c.1698_1706del (GPSM2)	ENSP00000385510.1:p.Phe566_Asn568del
ENST00000441735.1:c.467_475del (GPSM2)
NM_013296.4:c.1698_1706del (GPSM2)	NP_037428.3:p.Phe566_Asn568del
XM_005270787.2:c.1698_1706del (GPSM2)	XP_005270844.1:p.Phe566_Asn568del
XM_006710589.1:c.1641_1649del (GPSM2)	XP_006710652.1:p.Phe547_Asn549del
XM_011541301.1:c.1698_1706del (GPSM2)	XP_011539603.1:p.Phe566_Asn568del
XM_011541302.1:c.1698_1706del (GPSM2)	XP_011539604.1:p.Phe566_Asn568del
NM_001321038.1:c.1698_1706del (GPSM2)	NP_001307967.1:p.Phe566_Asn568del
NM_001321039.1:c.1698_1706del (GPSM2)	NP_001307968.1:p.Phe566_Asn568del
XM_006710589.3:c.1641_1649del (GPSM2)	XP_006710652.1:p.Phe547_Asn549del
XM_011541301.2:c.1698_1706del (GPSM2)	XP_011539603.1:p.Phe566_Asn568del
XM_011541302.3:c.1698_1706del (GPSM2)	XP_011539604.1:p.Phe566_Asn568del
XM_017001097.2:c.1698_1706del (GPSM2)	XP_016856586.1:p.Phe566_Asn568del
XM_017001098.2:c.1698_1706del (GPSM2)	XP_016856587.1:p.Phe566_Asn568del
NM_013296.5:c.1698_1706del (GPSM2) MANE Select	NP_037428.3:p.Phe566_Asn568del
NM_001321038.2:c.1698_1706del (GPSM2)	NP_001307967.1:p.Phe566_Asn568del
NM_001321039.2:c.1698_1706del (GPSM2)	NP_001307968.1:p.Phe566_Asn568del
NM_001321039.3:c.1698_1706del (GPSM2)	NP_001307968.1:p.Phe566_Asn568del