Canonical Allele Identifier: CA2574588516

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361995_71361997del , CM000672.2:g.71361995_71361997del	GRCh38
NC_000010.10:g.73121752_73121754del , CM000672.1:g.73121752_73121754del	GRCh37
NC_000010.9:g.72791758_72791760del	NCBI36
NG_017066.1:g.47743_47745del
NG_017066.2:g.47737_47739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2291_2293del
ENST00000373189.6:c.815_817del MANE Select	ENSP00000362285.5:p.Gly272del
ENST00000479577.2:c.581_583del	ENSP00000493995.1:p.Gly194del
ENST00000642198.1:c.*387_*389del	ENSP00000494827.1:n.*387_*389del
ENST00000642772.1:c.*94+5752_*94+5754del	ENSP00000495041.1:n.*94+5752_*94+5754del
ENST00000643042.1:c.436_438del	ENSP00000496674.1:n.436_438del
ENST00000643619.1:c.*398_*400del	ENSP00000494378.1:n.*398_*400del
ENST00000643752.1:c.*141_*143del	ENSP00000495000.1:n.*141_*143del
ENST00000644088.1:c.*136_*138del	ENSP00000494066.1:n.*136_*138del
ENST00000644591.1:c.*141_*143del	ENSP00000496664.1:n.*141_*143del
ENST00000644895.1:c.*99+5752_*99+5754del	ENSP00000493872.1:n.*99+5752_*99+5754del
ENST00000645345.1:c.*387_*389del	ENSP00000495859.1:n.*387_*389del
ENST00000647524.1:c.*398_*400del	ENSP00000495077.1:n.*398_*400del
ENST00000373189.5:c.815_817del	ENSP00000362285.5:p.Gly272del
ENST00000469204.1:n.312_314del
NM_001174098.1:c.*44_*46del	NP_001167569.1:n.*44_*46del
NM_018344.5:c.815_817del	NP_060814.4:p.Gly272del
NR_033413.1:n.789_791del
NR_033414.1:n.562_564del
XM_006717910.2:c.581_583del	XP_006717973.1:p.Gly194del
NM_001363518.1:c.581_583del	NP_001350447.1:p.Gly194del
XM_017016377.2:c.377_379del	XP_016871866.1:p.Gly126del
XM_017016378.2:c.197_199del	XP_016871867.1:p.Gly66del
NM_018344.6:c.815_817del MANE Select	NP_060814.4:p.Gly272del
NM_001174098.2:c.*44_*46del	NP_001167569.1:n.*44_*46del
NM_001363518.2:c.581_583del	NP_001350447.1:p.Gly194del
NR_033413.2:n.783_785del
NR_033414.2:n.556_558del