Canonical Allele Identifier: CA1918678294

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361987_71361988delinsGT , CM000672.2:g.71361987_71361988delinsGT	GRCh38
NC_000010.10:g.73121744_73121745delinsGT , CM000672.1:g.73121744_73121745delinsGT	GRCh37
NC_000010.9:g.72791750_72791751delinsGT	NCBI36
NG_017066.1:g.47735_47736delinsGT
NG_017066.2:g.47729_47730delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2283_2284delinsGT
ENST00000373189.6:c.807_808delinsGT MANE Select	ENSP00000362285.5:p.Val269=
ENST00000479577.2:c.573_574delinsGT	ENSP00000493995.1:p.Val191=
ENST00000642198.1:c.*379_*380delinsGT	ENSP00000494827.1:n.*379_*380delinsGT
ENST00000642772.1:c.*94+5744_*94+5745delinsGT	ENSP00000495041.1:n.*94+5744_*94+5745delinsGT
ENST00000643042.1:c.428_429delinsGT	ENSP00000496674.1:n.428_429delinsGT
ENST00000643619.1:c.*390_*391delinsGT	ENSP00000494378.1:n.*390_*391delinsGT
ENST00000643752.1:c.*133_*134delinsGT	ENSP00000495000.1:n.*133_*134delinsGT
ENST00000644088.1:c.*128_*129delinsGT	ENSP00000494066.1:n.*128_*129delinsGT
ENST00000644591.1:c.*133_*134delinsGT	ENSP00000496664.1:n.*133_*134delinsGT
ENST00000644895.1:c.*99+5744_*99+5745delinsGT	ENSP00000493872.1:n.*99+5744_*99+5745delinsGT
ENST00000645345.1:c.*379_*380delinsGT	ENSP00000495859.1:n.*379_*380delinsGT
ENST00000647524.1:c.*390_*391delinsGT	ENSP00000495077.1:n.*390_*391delinsGT
ENST00000373189.5:c.807_808delinsGT	ENSP00000362285.5:p.Val269=
ENST00000469204.1:n.304_305delinsGT
NM_001174098.1:c.*36_*37delinsGT	NP_001167569.1:n.*36_*37delinsGT
NM_018344.5:c.807_808delinsGT	NP_060814.4:p.Val269=
NR_033413.1:n.781_782delinsGT
NR_033414.1:n.554_555delinsGT
XM_006717910.2:c.573_574delinsGT	XP_006717973.1:p.Val191=
NM_001363518.1:c.573_574delinsGT	NP_001350447.1:p.Val191=
XM_017016377.2:c.369_370delinsGT	XP_016871866.1:p.Val123=
XM_017016378.2:c.189_190delinsGT	XP_016871867.1:p.Val63=
NM_018344.6:c.807_808delinsGT MANE Select	NP_060814.4:p.Val269=
NM_001174098.2:c.*36_*37delinsGT	NP_001167569.1:n.*36_*37delinsGT
NM_001363518.2:c.573_574delinsGT	NP_001350447.1:p.Val191=
NR_033413.2:n.775_776delinsGT
NR_033414.2:n.548_549delinsGT