Canonical Allele Identifier: CA2788468600

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362146_71362147del , CM000672.2:g.71362146_71362147del	GRCh38
NC_000010.10:g.73121903_73121904del , CM000672.1:g.73121903_73121904del	GRCh37
NC_000010.9:g.72791909_72791910del	NCBI36
NG_017066.1:g.47894_47895del
NG_017066.2:g.47888_47889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2442_2443del
ENST00000373189.6:c.966_967del MANE Select	ENSP00000362285.5:p.Tyr323ProfsTer?
ENST00000479577.2:c.732_733del	ENSP00000493995.1:p.Tyr245ProfsTer?
ENST00000642198.1:c.*538_*539del	ENSP00000494827.1:n.*538_*539del
ENST00000642772.1:c.*94+5903_*94+5904del	ENSP00000495041.1:n.*94+5903_*94+5904del
ENST00000643042.1:c.587_588del	ENSP00000496674.1:n.587_588del
ENST00000643619.1:c.*549_*550del	ENSP00000494378.1:n.*549_*550del
ENST00000643752.1:c.*292_*293del	ENSP00000495000.1:n.*292_*293del
ENST00000644088.1:c.*287_*288del	ENSP00000494066.1:n.*287_*288del
ENST00000644591.1:c.*292_*293del	ENSP00000496664.1:n.*292_*293del
ENST00000644895.1:c.*99+5903_*99+5904del	ENSP00000493872.1:n.*99+5903_*99+5904del
ENST00000645345.1:c.*538_*539del	ENSP00000495859.1:n.*538_*539del
ENST00000647524.1:c.*549_*550del	ENSP00000495077.1:n.*549_*550del
ENST00000373189.5:c.966_967del	ENSP00000362285.5:p.Tyr323ProfsTer?
ENST00000469204.1:n.463_464del
NM_001174098.1:c.*195_*196del	NP_001167569.1:n.*195_*196del
NM_018344.5:c.966_967del	NP_060814.4:p.Tyr323ProfsTer?
NR_033413.1:n.940_941del
NR_033414.1:n.713_714del
XM_006717910.2:c.732_733del	XP_006717973.1:p.Tyr245ProfsTer?
NM_001363518.1:c.732_733del	NP_001350447.1:p.Tyr245ProfsTer?
XM_017016377.2:c.528_529del	XP_016871866.1:p.Tyr177ProfsTer?
XM_017016378.2:c.348_349del	XP_016871867.1:p.Tyr117ProfsTer?
NM_018344.6:c.966_967del MANE Select	NP_060814.4:p.Tyr323ProfsTer?
NM_001174098.2:c.*195_*196del	NP_001167569.1:n.*195_*196del
NM_001363518.2:c.732_733del	NP_001350447.1:p.Tyr245ProfsTer?
NR_033413.2:n.934_935del
NR_033414.2:n.707_708del