Canonical Allele Identifier: CA1918678379

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362162_71362163delinsAC , CM000672.2:g.71362162_71362163delinsAC	GRCh38
NC_000010.10:g.73121919_73121920delinsAC , CM000672.1:g.73121919_73121920delinsAC	GRCh37
NC_000010.9:g.72791925_72791926delinsAC	NCBI36
NG_017066.1:g.47910_47911delinsAC
NG_017066.2:g.47904_47905delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2458_2459delinsAC
ENST00000373189.6:c.982_983delinsAC MANE Select	ENSP00000362285.5:p.Thr328=
ENST00000479577.2:c.748_749delinsAC	ENSP00000493995.1:p.Thr250=
ENST00000642198.1:c.*554_*555delinsAC	ENSP00000494827.1:n.*554_*555delinsAC
ENST00000642772.1:c.*94+5919_*94+5920delinsAC	ENSP00000495041.1:n.*94+5919_*94+5920delinsAC
ENST00000643042.1:c.603_604delinsAC	ENSP00000496674.1:n.603_604delinsAC
ENST00000643619.1:c.*565_*566delinsAC	ENSP00000494378.1:n.*565_*566delinsAC
ENST00000643752.1:c.*308_*309delinsAC	ENSP00000495000.1:n.*308_*309delinsAC
ENST00000644088.1:c.*303_*304delinsAC	ENSP00000494066.1:n.*303_*304delinsAC
ENST00000644591.1:c.*308_*309delinsAC	ENSP00000496664.1:n.*308_*309delinsAC
ENST00000644895.1:c.*99+5919_*99+5920delinsAC	ENSP00000493872.1:n.*99+5919_*99+5920delinsAC
ENST00000645345.1:c.*554_*555delinsAC	ENSP00000495859.1:n.*554_*555delinsAC
ENST00000647524.1:c.*565_*566delinsAC	ENSP00000495077.1:n.*565_*566delinsAC
ENST00000373189.5:c.982_983delinsAC	ENSP00000362285.5:p.Thr328=
ENST00000469204.1:n.479_480delinsAC
NM_001174098.1:c.*211_*212delinsAC	NP_001167569.1:n.*211_*212delinsAC
NM_018344.5:c.982_983delinsAC	NP_060814.4:p.Thr328=
NR_033413.1:n.956_957delinsAC
NR_033414.1:n.729_730delinsAC
XM_006717910.2:c.748_749delinsAC	XP_006717973.1:p.Thr250=
NM_001363518.1:c.748_749delinsAC	NP_001350447.1:p.Thr250=
XM_017016377.2:c.544_545delinsAC	XP_016871866.1:p.Thr182=
XM_017016378.2:c.364_365delinsAC	XP_016871867.1:p.Thr122=
NM_018344.6:c.982_983delinsAC MANE Select	NP_060814.4:p.Thr328=
NM_001174098.2:c.*211_*212delinsAC	NP_001167569.1:n.*211_*212delinsAC
NM_001363518.2:c.748_749delinsAC	NP_001350447.1:p.Thr250=
NR_033413.2:n.950_951delinsAC
NR_033414.2:n.723_724delinsAC