Canonical Allele Identifier: CA2580615499

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2000721
• ClinVar RCV Id: RCV002802175

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362091_71362093del , CM000672.2:g.71362091_71362093del	GRCh38
NC_000010.10:g.73121848_73121850del , CM000672.1:g.73121848_73121850del	GRCh37
NC_000010.9:g.72791854_72791856del	NCBI36
NG_017066.1:g.47839_47841del
NG_017066.2:g.47833_47835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2387_2389del
ENST00000373189.6:c.911_913del MANE Select	ENSP00000362285.5:p.Lys304del
ENST00000479577.2:c.677_679del	ENSP00000493995.1:p.Lys226del
ENST00000642198.1:c.*483_*485del	ENSP00000494827.1:n.*483_*485del
ENST00000642772.1:c.*94+5848_*94+5850del	ENSP00000495041.1:n.*94+5848_*94+5850del
ENST00000643042.1:c.532_534del	ENSP00000496674.1:n.532_534del
ENST00000643619.1:c.*494_*496del	ENSP00000494378.1:n.*494_*496del
ENST00000643752.1:c.*237_*239del	ENSP00000495000.1:n.*237_*239del
ENST00000644088.1:c.*232_*234del	ENSP00000494066.1:n.*232_*234del
ENST00000644591.1:c.*237_*239del	ENSP00000496664.1:n.*237_*239del
ENST00000644895.1:c.*99+5848_*99+5850del	ENSP00000493872.1:n.*99+5848_*99+5850del
ENST00000645345.1:c.*483_*485del	ENSP00000495859.1:n.*483_*485del
ENST00000647524.1:c.*494_*496del	ENSP00000495077.1:n.*494_*496del
ENST00000373189.5:c.911_913del	ENSP00000362285.5:p.Lys304del
ENST00000469204.1:n.408_410del
NM_001174098.1:c.*140_*142del	NP_001167569.1:n.*140_*142del
NM_018344.5:c.911_913del	NP_060814.4:p.Lys304del
NR_033413.1:n.885_887del
NR_033414.1:n.658_660del
XM_006717910.2:c.677_679del	XP_006717973.1:p.Lys226del
NM_001363518.1:c.677_679del	NP_001350447.1:p.Lys226del
XM_017016377.2:c.473_475del	XP_016871866.1:p.Lys158del
XM_017016378.2:c.293_295del	XP_016871867.1:p.Lys98del
NM_018344.6:c.911_913del MANE Select	NP_060814.4:p.Lys304del
NM_001174098.2:c.*140_*142del	NP_001167569.1:n.*140_*142del
NM_001363518.2:c.677_679del	NP_001350447.1:p.Lys226del
NR_033413.2:n.879_881del
NR_033414.2:n.652_654del