Canonical Allele Identifier: CA2145077000
Gene: SLC8A3 HGNC NCBI

Linked Data

dbSNP Id: rs1897162202

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.70166400_70166422del , CM000676.2:g.70166400_70166422del GRCh38
NC_000014.8:g.70633117_70633139del , CM000676.1:g.70633117_70633139del GRCh37
NC_000014.7:g.69702870_69702892del NCBI36
NG_047080.1:g.62192_62214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000528359.6:c.1784+218_1784+240del ENSP00000433531.1:n.1784+218_1784+240del
ENST00000705391.1:c.1784+218_1784+240del ENSP00000516120.1:n.1784+218_1784+240del
ENST00000356921.7:c.1784+218_1784+240del MANE Select ENSP00000349392.3:n.1784+218_1784+240del
ENST00000356921.6:c.1784+218_1784+240del ENSP00000349392.2:n.1784+218_1784+240del
ENST00000357887.7:c.1784+218_1784+240del ENSP00000350560.3:n.1784+218_1784+240del
ENST00000381269.6:c.1784+218_1784+240del ENSP00000370669.2:n.1784+218_1784+240del
ENST00000494208.5:c.1784+218_1784+240del ENSP00000436332.1:n.1784+218_1784+240del
ENST00000528359.5:c.1784+218_1784+240del ENSP00000433531.1:n.1784+218_1784+240del
ENST00000534137.5:c.1784+218_1784+240del ENSP00000436688.1:n.1784+218_1784+240del
NM_033262.4:c.1784+218_1784+240del NP_150287.1:n.1784+218_1784+240del
NM_058240.3:c.1784+218_1784+240del NP_489479.1:n.1784+218_1784+240del
NM_182932.2:c.1784+218_1784+240del NP_891977.1:n.1784+218_1784+240del
NM_183002.2:c.1784+218_1784+240del NP_892114.1:n.1784+218_1784+240del
NR_104122.1:n.2538+218_2538+240del
XM_005268017.1:c.1784+218_1784+240del XP_005268074.1:n.1784+218_1784+240del
XM_005268018.2:c.1253+218_1253+240del XP_005268075.2:n.1253+218_1253+240del
XM_011537101.1:c.1784+218_1784+240del XP_011535403.1:n.1784+218_1784+240del
XM_011537102.1:c.1784+218_1784+240del XP_011535404.1:n.1784+218_1784+240del
XM_017021606.1:c.1784+218_1784+240del XP_016877095.1:n.1784+218_1784+240del
XM_017021607.1:c.1784+218_1784+240del XP_016877096.1:n.1784+218_1784+240del
XM_017021608.1:c.1784+218_1784+240del XP_016877097.1:n.1784+218_1784+240del
XM_017021609.1:c.1784+218_1784+240del XP_016877098.1:n.1784+218_1784+240del
XM_017021610.1:c.*20_*42del XP_016877099.1:n.*20_*42del
NM_058240.4:c.1784+218_1784+240del NP_489479.1:n.1784+218_1784+240del
NM_182932.3:c.1784+218_1784+240del MANE Select NP_891977.1:n.1784+218_1784+240del
NM_183002.3:c.1784+218_1784+240del NP_892114.1:n.1784+218_1784+240del
NR_104122.2:n.2419+218_2419+240del
NM_033262.5:c.1784+218_1784+240del NP_150287.1:n.1784+218_1784+240del