Canonical Allele Identifier: CA1187885091

Linked Data

dbSNP Id: rs1650049144

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108914726_108914729del , CM000663.2:g.108914726_108914729del GRCh38
NC_000001.10:g.109457348_109457351del , CM000663.1:g.109457348_109457351del GRCh37
NC_000001.9:g.109258871_109258874del NCBI36
NG_028108.1:g.42746_42749del
NG_028108.2:g.44377_44380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000690509.1:c.*45+19898_*45+19901del (CLCC1) ENSP00000510142.1:n.*45+19898_*45+19901del
ENST00000264126.9:c.1263+318_1263+321del (GPSM2) MANE Select ENSP00000264126.3:n.1263+318_1263+321del
ENST00000357393.6:c.-1+48634_-1+48637del (AKNAD1) ENSP00000349968.6:n.-1+48634_-1+48637del
ENST00000441735.2:c.1263+318_1263+321del (GPSM2) ENSP00000390629.2:n.1263+318_1263+321del
ENST00000446797.2:c.1263+318_1263+321del (GPSM2) ENSP00000392138.2:n.1263+318_1263+321del
ENST00000642355.1:c.1263+318_1263+321del (GPSM2) ENSP00000496104.1:n.1263+318_1263+321del
ENST00000643643.1:c.352+318_352+321del (GPSM2)
ENST00000645164.2:c.1263+318_1263+321del (GPSM2) ENSP00000496756.2:n.1263+318_1263+321del
ENST00000674700.1:c.1206+318_1206+321del (GPSM2) ENSP00000501743.1:n.1206+318_1206+321del
ENST00000674731.1:c.1136-3887_1136-3884del (GPSM2) ENSP00000502401.1:n.1136-3887_1136-3884del
ENST00000674914.1:c.1314+318_1314+321del (GPSM2) ENSP00000501579.1:n.1314+318_1314+321del
ENST00000675086.1:c.1263+318_1263+321del (GPSM2) ENSP00000502476.1:n.1263+318_1263+321del
ENST00000675087.1:c.1314+318_1314+321del (GPSM2) ENSP00000502020.1:n.1314+318_1314+321del
ENST00000675617.1:n.1924_1927del (GPSM2)
ENST00000675740.1:n.1038+318_1038+321del (GPSM2)
ENST00000676184.1:c.1263+318_1263+321del (GPSM2) ENSP00000502178.1:n.1263+318_1263+321del
ENST00000676404.1:c.1206+318_1206+321del (GPSM2) ENSP00000502346.1:n.1206+318_1206+321del
ENST00000264126.7:c.1263+318_1263+321del (GPSM2) ENSP00000264126.3:n.1263+318_1263+321del
ENST00000357393.5:c.114+48634_114+48637del ENSP00000349968.5:n.114+48634_114+48637del
ENST00000406462.6:c.1263+318_1263+321del (GPSM2) ENSP00000385510.1:n.1263+318_1263+321del
ENST00000441735.1:c.32+318_32+321del (GPSM2)
NM_013296.4:c.1263+318_1263+321del (GPSM2) NP_037428.3:n.1263+318_1263+321del
XM_005270787.2:c.1263+318_1263+321del (GPSM2) XP_005270844.1:n.1263+318_1263+321del
XM_006710589.1:c.1206+318_1206+321del (GPSM2) XP_006710652.1:n.1206+318_1206+321del
XM_011541301.1:c.1263+318_1263+321del (GPSM2) XP_011539603.1:n.1263+318_1263+321del
XM_011541302.1:c.1263+318_1263+321del (GPSM2) XP_011539604.1:n.1263+318_1263+321del
XM_011541303.1:c.1263+318_1263+321del (GPSM2) XP_011539605.1:n.1263+318_1263+321del
NM_001321038.1:c.1263+318_1263+321del (GPSM2) NP_001307967.1:n.1263+318_1263+321del
NM_001321039.1:c.1263+318_1263+321del (GPSM2) NP_001307968.1:n.1263+318_1263+321del
XM_006710589.3:c.1206+318_1206+321del (GPSM2) XP_006710652.1:n.1206+318_1206+321del
XM_011541301.2:c.1263+318_1263+321del (GPSM2) XP_011539603.1:n.1263+318_1263+321del
XM_011541302.3:c.1263+318_1263+321del (GPSM2) XP_011539604.1:n.1263+318_1263+321del
XM_011541303.3:c.1263+318_1263+321del (GPSM2) XP_011539605.1:n.1263+318_1263+321del
XM_017001097.2:c.1263+318_1263+321del (GPSM2) XP_016856586.1:n.1263+318_1263+321del
XM_017001098.2:c.1263+318_1263+321del (GPSM2) XP_016856587.1:n.1263+318_1263+321del
NM_013296.5:c.1263+318_1263+321del (GPSM2) MANE Select NP_037428.3:n.1263+318_1263+321del
NM_001321038.2:c.1263+318_1263+321del (GPSM2) NP_001307967.1:n.1263+318_1263+321del
NM_001321039.2:c.1263+318_1263+321del (GPSM2) NP_001307968.1:n.1263+318_1263+321del
NM_001321039.3:c.1263+318_1263+321del (GPSM2) NP_001307968.1:n.1263+318_1263+321del