Canonical Allele Identifier: CA1187891521
Gene: CLCC1 HGNC NCBI
GPSM2 HGNC NCBI
AKNAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1651682653
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108930215_108930216del , CM000663.2:g.108930215_108930216del GRCh38
NC_000001.10:g.109472837_109472838del , CM000663.1:g.109472837_109472838del GRCh37
NC_000001.9:g.109274360_109274361del NCBI36
NG_028108.1:g.58235_58236del
NG_028108.2:g.59866_59867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369976.6:c.3643_3644del (CLCC1)
ENST00000473062.2:c.107-10_107-9del (CLCC1)
ENST00000482889.2:c.528-10_528-9del (CLCC1)
ENST00000685014.1:c.*2333_*2334del (CLCC1) ENSP00000510582.1:n.*2333_*2334del
ENST00000685104.1:c.*2333_*2334del (CLCC1) ENSP00000508473.1:n.*2333_*2334del
ENST00000685497.1:c.*2333_*2334del (CLCC1) ENSP00000509420.1:n.*2333_*2334del
ENST00000685540.1:c.*2333_*2334del (CLCC1) ENSP00000510352.1:n.*2333_*2334del
ENST00000685791.1:c.*2338_*2339del (CLCC1) ENSP00000509029.1:n.*2338_*2339del
ENST00000686434.1:c.*2333_*2334del (CLCC1) ENSP00000508570.1:n.*2333_*2334del
ENST00000686576.1:c.*3127_*3128del (CLCC1) ENSP00000508853.1:n.*3127_*3128del
ENST00000686776.1:c.*2333_*2334del (CLCC1) ENSP00000509013.1:n.*2333_*2334del
ENST00000686817.1:c.*2338_*2339del (CLCC1) ENSP00000510123.1:n.*2338_*2339del
ENST00000686821.1:c.*2333_*2334del (CLCC1) ENSP00000508563.1:n.*2333_*2334del
ENST00000687099.1:c.*2338_*2339del (CLCC1) ENSP00000509546.1:n.*2338_*2339del
ENST00000687134.1:c.*2333_*2334del (CLCC1) ENSP00000510579.1:n.*2333_*2334del
ENST00000687226.1:c.*2333_*2334del (CLCC1) ENSP00000509162.1:n.*2333_*2334del
ENST00000687328.1:c.*2333_*2334del (CLCC1) ENSP00000508816.1:n.*2333_*2334del
ENST00000687449.1:c.*2338_*2339del (CLCC1) ENSP00000508982.1:n.*2338_*2339del
ENST00000687591.1:c.*2333_*2334del (CLCC1) ENSP00000509036.1:n.*2333_*2334del
ENST00000687646.1:c.*2333_*2334del (CLCC1) ENSP00000509187.1:n.*2333_*2334del
ENST00000687675.1:n.4382_4383del (CLCC1)
ENST00000687734.1:c.*2333_*2334del (CLCC1) ENSP00000510543.1:n.*2333_*2334del
ENST00000687865.1:c.*2338_*2339del (CLCC1) ENSP00000509218.1:n.*2338_*2339del
ENST00000687998.1:n.6100_6101del (CLCC1)
ENST00000688070.1:c.*3238_*3239del (CLCC1) ENSP00000508766.1:n.*3238_*3239del
ENST00000688285.1:c.*2338_*2339del (CLCC1) ENSP00000509990.1:n.*2338_*2339del
ENST00000688298.1:n.3874_3875del (CLCC1)
ENST00000688778.1:c.*2333_*2334del (CLCC1) ENSP00000510715.1:n.*2333_*2334del
ENST00000689103.1:c.*2333_*2334del (CLCC1) ENSP00000510039.1:n.*2333_*2334del
ENST00000689189.1:c.*2338_*2339del (CLCC1) ENSP00000510675.1:n.*2338_*2339del
ENST00000689351.1:c.*2333_*2334del (CLCC1) ENSP00000508607.1:n.*2333_*2334del
ENST00000689479.1:c.*2333_*2334del (CLCC1) ENSP00000510122.1:n.*2333_*2334del
ENST00000689991.1:c.*2333_*2334del (CLCC1) ENSP00000508952.1:n.*2333_*2334del
ENST00000690509.1:c.*45+4411_*45+4412del (CLCC1) ENSP00000510142.1:n.*45+4411_*45+4412del
ENST00000690707.1:n.3844_3845del (CLCC1)
ENST00000690756.1:c.*2333_*2334del (CLCC1) ENSP00000509544.1:n.*2333_*2334del
ENST00000690781.1:c.*2338_*2339del (CLCC1) ENSP00000510137.1:n.*2338_*2339del
ENST00000691342.1:c.*2333_*2334del (CLCC1) ENSP00000509738.1:n.*2333_*2334del
ENST00000691513.1:c.*2333_*2334del (CLCC1) ENSP00000509584.1:n.*2333_*2334del
ENST00000691556.1:c.*2338_*2339del (CLCC1) ENSP00000509451.1:n.*2338_*2339del
ENST00000691777.1:c.*2333_*2334del (CLCC1) ENSP00000508556.1:n.*2333_*2334del
ENST00000692184.1:c.317-10_317-9del (CLCC1)
ENST00000692342.1:c.*2333_*2334del (CLCC1) ENSP00000509495.1:n.*2333_*2334del
ENST00000692511.1:c.*2333_*2334del (CLCC1) ENSP00000510067.1:n.*2333_*2334del
ENST00000692584.1:n.3437_3438del (CLCC1)
ENST00000692775.1:c.*3806_*3807del (CLCC1) ENSP00000509201.1:n.*3806_*3807del
ENST00000693336.1:c.*2333_*2334del (CLCC1) ENSP00000509936.1:n.*2333_*2334del
ENST00000264126.9:c.*275_*276del (GPSM2) MANE Select ENSP00000264126.3:n.*275_*276del
ENST00000357393.6:c.-1+33147_-1+33148del (AKNAD1) ENSP00000349968.6:n.-1+33147_-1+33148del
ENST00000369968.7:c.*2333_*2334del (CLCC1) ENSP00000358985.3:n.*2333_*2334del
ENST00000369969.7:c.*2333_*2334del (CLCC1) MANE Select ENSP00000358986.3:n.*2333_*2334del
ENST00000446797.2:c.*275_*276del (GPSM2) ENSP00000392138.2:n.*275_*276del
ENST00000642355.1:c.*35+240_*35+241del (GPSM2) ENSP00000496104.1:n.*35+240_*35+241del
ENST00000645164.2:c.*275_*276del (GPSM2) ENSP00000496756.2:n.*275_*276del
ENST00000674700.1:c.*498_*499del (GPSM2) ENSP00000501743.1:n.*498_*499del
ENST00000674731.1:c.*1047_*1048del (GPSM2) ENSP00000502401.1:n.*1047_*1048del
ENST00000674914.1:c.*275_*276del (GPSM2) ENSP00000501579.1:n.*275_*276del
ENST00000674992.1:c.*3806_*3807del (CLCC1) ENSP00000501696.1:n.*3806_*3807del
ENST00000675001.1:c.*3806_*3807del (CLCC1) ENSP00000502551.1:n.*3806_*3807del
ENST00000675018.1:c.*2333_*2334del (CLCC1) ENSP00000501777.1:n.*2333_*2334del
ENST00000675086.1:c.*275_*276del (GPSM2) ENSP00000502476.1:n.*275_*276del
ENST00000675087.1:c.*275_*276del (GPSM2) ENSP00000502020.1:n.*275_*276del
ENST00000675740.1:n.1945_1946del (GPSM2)
ENST00000676184.1:c.*275_*276del (GPSM2) ENSP00000502178.1:n.*275_*276del
ENST00000264126.7:c.*275_*276del (GPSM2) ENSP00000264126.3:n.*275_*276del
ENST00000356970.6:c.*2333_*2334del (CLCC1) ENSP00000349456.2:n.*2333_*2334del
ENST00000357393.5:c.114+33147_114+33148del ENSP00000349968.5:n.114+33147_114+33148del
ENST00000369968.6:c.*2333_*2334del (CLCC1) ENSP00000358985.2:n.*2333_*2334del
ENST00000369969.6:c.*2333_*2334del (CLCC1) ENSP00000358986.2:n.*2333_*2334del
ENST00000369976.5:c.*1142_*1143del (CLCC1) ENSP00000358993.1:n.*1142_*1143del
ENST00000406462.6:c.*275_*276del (GPSM2) ENSP00000385510.1:n.*275_*276del
ENST00000473062.1:n.54-10_54-9del (CLCC1)
ENST00000482889.1:n.528-10_528-9del (CLCC1)
NM_001048210.2:c.*2333_*2334del (CLCC1) NP_001041675.1:n.*2333_*2334del
NM_001278202.1:c.*2333_*2334del (CLCC1) NP_001265131.1:n.*2333_*2334del
NM_001278203.1:c.*2333_*2334del (CLCC1) NP_001265132.1:n.*2333_*2334del
NM_013296.4:c.*275_*276del (GPSM2) NP_037428.3:n.*275_*276del
NM_015127.4:c.*2333_*2334del (CLCC1) NP_055942.1:n.*2333_*2334del
XM_005270787.2:c.*275_*276del (GPSM2) XP_005270844.1:n.*275_*276del
XM_006710589.1:c.*275_*276del (GPSM2) XP_006710652.1:n.*275_*276del
XM_011541301.1:c.*275_*276del (GPSM2) XP_011539603.1:n.*275_*276del
XM_011541302.1:c.*275_*276del (GPSM2) XP_011539604.1:n.*275_*276del
NM_001321038.1:c.*275_*276del (GPSM2) NP_001307967.1:n.*275_*276del
NM_001321039.1:c.*35+240_*35+241del (GPSM2) NP_001307968.1:n.*35+240_*35+241del
XM_006710589.3:c.*275_*276del (GPSM2) XP_006710652.1:n.*275_*276del
XM_011541301.2:c.*275_*276del (GPSM2) XP_011539603.1:n.*275_*276del
XM_011541302.3:c.*275_*276del (GPSM2) XP_011539604.1:n.*275_*276del
XM_017001097.2:c.*275_*276del (GPSM2) XP_016856586.1:n.*275_*276del
XM_017001098.2:c.*275_*276del (GPSM2) XP_016856587.1:n.*275_*276del
NM_013296.5:c.*275_*276del (GPSM2) MANE Select NP_037428.3:n.*275_*276del
NM_001048210.3:c.*2333_*2334del (CLCC1) NP_001041675.1:n.*2333_*2334del
NM_001278202.2:c.*2333_*2334del (CLCC1) NP_001265131.1:n.*2333_*2334del
NM_001321038.2:c.*275_*276del (GPSM2) NP_001307967.1:n.*275_*276del
NM_001321039.2:c.*35+240_*35+241del (GPSM2) NP_001307968.1:n.*35+240_*35+241del
NM_001377458.1:c.*2333_*2334del (CLCC1) MANE Select NP_001364387.1:n.*2333_*2334del
NM_001377459.1:c.*2338_*2339del (CLCC1) NP_001364388.1:n.*2338_*2339del
NM_001377460.1:c.*2338_*2339del (CLCC1) NP_001364389.1:n.*2338_*2339del
NM_001377461.1:c.*2333_*2334del (CLCC1) NP_001364390.1:n.*2333_*2334del
NM_001377462.1:c.*2338_*2339del (CLCC1) NP_001364391.1:n.*2338_*2339del
NM_001377463.1:c.*2333_*2334del (CLCC1) NP_001364392.1:n.*2333_*2334del
NM_001377464.1:c.*2333_*2334del (CLCC1) NP_001364393.1:n.*2333_*2334del
NM_001377465.1:c.*2333_*2334del (CLCC1) NP_001364394.1:n.*2333_*2334del
NM_001377466.1:c.*2333_*2334del (CLCC1) NP_001364395.1:n.*2333_*2334del
NM_001377467.1:c.*2333_*2334del (CLCC1) NP_001364396.1:n.*2333_*2334del
NM_001377468.1:c.*2338_*2339del (CLCC1) NP_001364397.1:n.*2338_*2339del
NM_001377469.1:c.*2333_*2334del (CLCC1) NP_001364398.1:n.*2333_*2334del
NM_001377470.1:c.*2333_*2334del (CLCC1) NP_001364399.1:n.*2333_*2334del
NM_015127.5:c.*2333_*2334del (CLCC1) NP_055942.1:n.*2333_*2334del
NR_165299.1:n.4604_4605del (CLCC1)
NM_001321039.3:c.*35+240_*35+241del (GPSM2) NP_001307968.1:n.*35+240_*35+241del
Search 100 bp 5'
Search 100 bp 3'