Canonical Allele Identifier: CA1005598284

Gene: CLCC1 GPSM2 AKNAD1

Linked Data

• dbSNP Id: rs1650029071
• gnomAD v3: 1-108914517-CTT-C
• gnomAD v4: 1-108914517-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.108914519_108914520del , CM000663.2:g.108914519_108914520del	GRCh38
NC_000001.10:g.109457141_109457142del , CM000663.1:g.109457141_109457142del	GRCh37
NC_000001.9:g.109258664_109258665del	NCBI36
NG_028108.1:g.42539_42540del
NG_028108.2:g.44170_44171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690509.1:c.*45+20106_*45+20107del (CLCC1)	ENSP00000510142.1:n.*45+20106_*45+20107del
ENST00000264126.9:c.1263+111_1263+112del (GPSM2) MANE Select	ENSP00000264126.3:n.1263+111_1263+112del
ENST00000357393.6:c.-1+48842_-1+48843del (AKNAD1)	ENSP00000349968.6:n.-1+48842_-1+48843del
ENST00000441735.2:c.1263+111_1263+112del (GPSM2)	ENSP00000390629.2:n.1263+111_1263+112del
ENST00000446797.2:c.1263+111_1263+112del (GPSM2)	ENSP00000392138.2:n.1263+111_1263+112del
ENST00000642355.1:c.1263+111_1263+112del (GPSM2)	ENSP00000496104.1:n.1263+111_1263+112del
ENST00000643643.1:c.352+111_352+112del (GPSM2)
ENST00000645164.2:c.1263+111_1263+112del (GPSM2)	ENSP00000496756.2:n.1263+111_1263+112del
ENST00000674700.1:c.1206+111_1206+112del (GPSM2)	ENSP00000501743.1:n.1206+111_1206+112del
ENST00000674731.1:c.1136-4094_1136-4093del (GPSM2)	ENSP00000502401.1:n.1136-4094_1136-4093del
ENST00000674914.1:c.1314+111_1314+112del (GPSM2)	ENSP00000501579.1:n.1314+111_1314+112del
ENST00000675086.1:c.1263+111_1263+112del (GPSM2)	ENSP00000502476.1:n.1263+111_1263+112del
ENST00000675087.1:c.1314+111_1314+112del (GPSM2)	ENSP00000502020.1:n.1314+111_1314+112del
ENST00000675617.1:n.1826-109_1826-108del (GPSM2)
ENST00000675740.1:n.1038+111_1038+112del (GPSM2)
ENST00000676184.1:c.1263+111_1263+112del (GPSM2)	ENSP00000502178.1:n.1263+111_1263+112del
ENST00000676404.1:c.1206+111_1206+112del (GPSM2)	ENSP00000502346.1:n.1206+111_1206+112del
ENST00000264126.7:c.1263+111_1263+112del (GPSM2)	ENSP00000264126.3:n.1263+111_1263+112del
ENST00000357393.5:c.114+48842_114+48843del	ENSP00000349968.5:n.114+48842_114+48843del
ENST00000406462.6:c.1263+111_1263+112del (GPSM2)	ENSP00000385510.1:n.1263+111_1263+112del
ENST00000441735.1:c.32+111_32+112del (GPSM2)
NM_013296.4:c.1263+111_1263+112del (GPSM2)	NP_037428.3:n.1263+111_1263+112del
XM_005270787.2:c.1263+111_1263+112del (GPSM2)	XP_005270844.1:n.1263+111_1263+112del
XM_006710589.1:c.1206+111_1206+112del (GPSM2)	XP_006710652.1:n.1206+111_1206+112del
XM_011541301.1:c.1263+111_1263+112del (GPSM2)	XP_011539603.1:n.1263+111_1263+112del
XM_011541302.1:c.1263+111_1263+112del (GPSM2)	XP_011539604.1:n.1263+111_1263+112del
XM_011541303.1:c.1263+111_1263+112del (GPSM2)	XP_011539605.1:n.1263+111_1263+112del
NM_001321038.1:c.1263+111_1263+112del (GPSM2)	NP_001307967.1:n.1263+111_1263+112del
NM_001321039.1:c.1263+111_1263+112del (GPSM2)	NP_001307968.1:n.1263+111_1263+112del
XM_006710589.3:c.1206+111_1206+112del (GPSM2)	XP_006710652.1:n.1206+111_1206+112del
XM_011541301.2:c.1263+111_1263+112del (GPSM2)	XP_011539603.1:n.1263+111_1263+112del
XM_011541302.3:c.1263+111_1263+112del (GPSM2)	XP_011539604.1:n.1263+111_1263+112del
XM_011541303.3:c.1263+111_1263+112del (GPSM2)	XP_011539605.1:n.1263+111_1263+112del
XM_017001097.2:c.1263+111_1263+112del (GPSM2)	XP_016856586.1:n.1263+111_1263+112del
XM_017001098.2:c.1263+111_1263+112del (GPSM2)	XP_016856587.1:n.1263+111_1263+112del
NM_013296.5:c.1263+111_1263+112del (GPSM2) MANE Select	NP_037428.3:n.1263+111_1263+112del
NM_001321038.2:c.1263+111_1263+112del (GPSM2)	NP_001307967.1:n.1263+111_1263+112del
NM_001321039.2:c.1263+111_1263+112del (GPSM2)	NP_001307968.1:n.1263+111_1263+112del
NM_001321039.3:c.1263+111_1263+112del (GPSM2)	NP_001307968.1:n.1263+111_1263+112del