Canonical Allele Identifier: CA1918678343

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362094_71362095delinsCG , CM000672.2:g.71362094_71362095delinsCG	GRCh38
NC_000010.10:g.73121851_73121852delinsCG , CM000672.1:g.73121851_73121852delinsCG	GRCh37
NC_000010.9:g.72791857_72791858delinsCG	NCBI36
NG_017066.1:g.47842_47843delinsCG
NG_017066.2:g.47836_47837delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2390_2391delinsCG
ENST00000373189.6:c.914_915delinsCG MANE Select	ENSP00000362285.5:p.Thr305=
ENST00000479577.2:c.680_681delinsCG	ENSP00000493995.1:p.Thr227=
ENST00000642198.1:c.*486_*487delinsCG	ENSP00000494827.1:n.*486_*487delinsCG
ENST00000642772.1:c.*94+5851_*94+5852delinsCG	ENSP00000495041.1:n.*94+5851_*94+5852delinsCG
ENST00000643042.1:c.535_536delinsCG	ENSP00000496674.1:n.535_536delinsCG
ENST00000643619.1:c.*497_*498delinsCG	ENSP00000494378.1:n.*497_*498delinsCG
ENST00000643752.1:c.*240_*241delinsCG	ENSP00000495000.1:n.*240_*241delinsCG
ENST00000644088.1:c.*235_*236delinsCG	ENSP00000494066.1:n.*235_*236delinsCG
ENST00000644591.1:c.*240_*241delinsCG	ENSP00000496664.1:n.*240_*241delinsCG
ENST00000644895.1:c.*99+5851_*99+5852delinsCG	ENSP00000493872.1:n.*99+5851_*99+5852delinsCG
ENST00000645345.1:c.*486_*487delinsCG	ENSP00000495859.1:n.*486_*487delinsCG
ENST00000647524.1:c.*497_*498delinsCG	ENSP00000495077.1:n.*497_*498delinsCG
ENST00000373189.5:c.914_915delinsCG	ENSP00000362285.5:p.Thr305=
ENST00000469204.1:n.411_412delinsCG
NM_001174098.1:c.*143_*144delinsCG	NP_001167569.1:n.*143_*144delinsCG
NM_018344.5:c.914_915delinsCG	NP_060814.4:p.Thr305=
NR_033413.1:n.888_889delinsCG
NR_033414.1:n.661_662delinsCG
XM_006717910.2:c.680_681delinsCG	XP_006717973.1:p.Thr227=
NM_001363518.1:c.680_681delinsCG	NP_001350447.1:p.Thr227=
XM_017016377.2:c.476_477delinsCG	XP_016871866.1:p.Thr159=
XM_017016378.2:c.296_297delinsCG	XP_016871867.1:p.Thr99=
NM_018344.6:c.914_915delinsCG MANE Select	NP_060814.4:p.Thr305=
NM_001174098.2:c.*143_*144delinsCG	NP_001167569.1:n.*143_*144delinsCG
NM_001363518.2:c.680_681delinsCG	NP_001350447.1:p.Thr227=
NR_033413.2:n.882_883delinsCG
NR_033414.2:n.655_656delinsCG