Canonical Allele Identifier: CA2580081804

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1993275
• ClinVar RCV Id: RCV002801270

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362474del , CM000672.2:g.71362474del	GRCh38
NC_000010.10:g.73122231del , CM000672.1:g.73122231del	GRCh37
NC_000010.9:g.72792237del	NCBI36
NG_017066.1:g.48222del
NG_017066.2:g.48216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2770del
ENST00000373189.6:c.1294del MANE Select	ENSP00000362285.5:p.Leu432TrpfsTer21
ENST00000479577.2:c.1060del	ENSP00000493995.1:p.Leu354TrpfsTer21
ENST00000642198.1:c.*866del	ENSP00000494827.1:n.*866del
ENST00000642772.1:c.*94+6231del	ENSP00000495041.1:n.*94+6231del
ENST00000643042.1:c.915del	ENSP00000496674.1:n.915del
ENST00000643619.1:c.*877del	ENSP00000494378.1:n.*877del
ENST00000643752.1:c.*620del	ENSP00000495000.1:n.*620del
ENST00000644088.1:c.*615del	ENSP00000494066.1:n.*615del
ENST00000644591.1:c.*620del	ENSP00000496664.1:n.*620del
ENST00000644895.1:c.*99+6231del	ENSP00000493872.1:n.*99+6231del
ENST00000645345.1:c.*866del	ENSP00000495859.1:n.*866del
ENST00000647524.1:c.*877del	ENSP00000495077.1:n.*877del
ENST00000373189.5:c.1294del	ENSP00000362285.5:p.Leu432TrpfsTer21
ENST00000469204.1:n.791del
NM_001174098.1:c.*523del	NP_001167569.1:n.*523del
NM_018344.5:c.1294del	NP_060814.4:p.Leu432TrpfsTer21
NR_033413.1:n.1268del
NR_033414.1:n.1041del
XM_006717910.2:c.1060del	XP_006717973.1:p.Leu354TrpfsTer21
NM_001363518.1:c.1060del	NP_001350447.1:p.Leu354TrpfsTer21
XM_017016377.2:c.856del	XP_016871866.1:p.Leu286TrpfsTer21
XM_017016378.2:c.676del	XP_016871867.1:p.Leu226TrpfsTer21
NM_018344.6:c.1294del MANE Select	NP_060814.4:p.Leu432TrpfsTer21
NM_001174098.2:c.*523del	NP_001167569.1:n.*523del
NM_001363518.2:c.1060del	NP_001350447.1:p.Leu354TrpfsTer21
NR_033413.2:n.1262del
NR_033414.2:n.1035del