Canonical Allele Identifier: CA2575576486

Gene: SLC8A3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.70166656del , CM000676.2:g.70166656del	GRCh38
NC_000014.8:g.70633373del , CM000676.1:g.70633373del	GRCh37
NC_000014.7:g.69703126del	NCBI36
NG_047080.1:g.61957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528359.6:c.1767del	ENSP00000433531.1:p.Phe589LeufsTer14
ENST00000705391.1:c.1767del	ENSP00000516120.1:p.Phe589LeufsTer7
ENST00000356921.7:c.1767del MANE Select	ENSP00000349392.3:p.Phe589LeufsTer7
ENST00000356921.6:c.1767del	ENSP00000349392.2:p.Phe589LeufsTer7
ENST00000357887.7:c.1767del	ENSP00000350560.3:p.Phe589LeufsTer14
ENST00000381269.6:c.1767del	ENSP00000370669.2:p.Phe589LeufsTer7
ENST00000494208.5:c.1767del	ENSP00000436332.1:p.Phe589LeufsTer?
ENST00000528359.5:c.1767del	ENSP00000433531.1:p.Phe589LeufsTer14
ENST00000534137.5:c.1767del	ENSP00000436688.1:p.Phe589LeufsTer7
NM_033262.4:c.1767del	NP_150287.1:p.Phe589LeufsTer14
NM_058240.3:c.1767del	NP_489479.1:p.Phe589LeufsTer7
NM_182932.2:c.1767del	NP_891977.1:p.Phe589LeufsTer7
NM_183002.2:c.1767del	NP_892114.1:p.Phe589LeufsTer7
NR_104122.1:n.2521del
XM_005268017.1:c.1767del	XP_005268074.1:p.Phe589LeufsTer14
XM_005268018.2:c.1236del	XP_005268075.2:p.Phe412LeufsTer14
XM_011537101.1:c.1767del	XP_011535403.1:p.Phe589LeufsTer14
XM_011537102.1:c.1767del	XP_011535404.1:p.Phe589LeufsTer7
XM_017021606.1:c.1767del	XP_016877095.1:p.Phe589LeufsTer7
XM_017021607.1:c.1767del	XP_016877096.1:p.Phe589LeufsTer7
XM_017021608.1:c.1767del	XP_016877097.1:p.Phe589LeufsTer7
XM_017021609.1:c.1767del	XP_016877098.1:p.Phe589LeufsTer7
XM_017021610.1:c.1767del	XP_016877099.1:p.Phe589LeufsTer?
NM_058240.4:c.1767del	NP_489479.1:p.Phe589LeufsTer7
NM_182932.3:c.1767del MANE Select	NP_891977.1:p.Phe589LeufsTer7
NM_183002.3:c.1767del	NP_892114.1:p.Phe589LeufsTer7
NR_104122.2:n.2402del
NM_033262.5:c.1767del	NP_150287.1:p.Phe589LeufsTer14