Canonical Allele Identifier: CA2788468602

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362506_71362524del , CM000672.2:g.71362506_71362524del	GRCh38
NC_000010.10:g.73122263_73122281del , CM000672.1:g.73122263_73122281del	GRCh37
NC_000010.9:g.72792269_72792287del	NCBI36
NG_017066.1:g.48254_48272del
NG_017066.2:g.48248_48266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2802_2820del
ENST00000373189.6:c.1326_1344del MANE Select	ENSP00000362285.5:p.Leu445TrpfsTer2
ENST00000479577.2:c.1092_1110del	ENSP00000493995.1:p.Leu367TrpfsTer2
ENST00000642198.1:c.*898_*916del	ENSP00000494827.1:n.*898_*916del
ENST00000642772.1:c.*94+6263_*94+6281del	ENSP00000495041.1:n.*94+6263_*94+6281del
ENST00000643042.1:c.947_965del	ENSP00000496674.1:n.947_965del
ENST00000643619.1:c.*909_*927del	ENSP00000494378.1:n.*909_*927del
ENST00000643752.1:c.*652_*670del	ENSP00000495000.1:n.*652_*670del
ENST00000644088.1:c.*647_*665del	ENSP00000494066.1:n.*647_*665del
ENST00000644591.1:c.*652_*670del	ENSP00000496664.1:n.*652_*670del
ENST00000644895.1:c.*99+6263_*99+6281del	ENSP00000493872.1:n.*99+6263_*99+6281del
ENST00000645345.1:c.*898_*916del	ENSP00000495859.1:n.*898_*916del
ENST00000647524.1:c.*909_*927del	ENSP00000495077.1:n.*909_*927del
ENST00000373189.5:c.1326_1344del	ENSP00000362285.5:p.Leu445TrpfsTer2
NM_001174098.1:c.*555_*573del	NP_001167569.1:n.*555_*573del
NM_018344.5:c.1326_1344del	NP_060814.4:p.Leu445TrpfsTer2
NR_033413.1:n.1300_1318del
NR_033414.1:n.1073_1091del
XM_006717910.2:c.1092_1110del	XP_006717973.1:p.Leu367TrpfsTer2
NM_001363518.1:c.1092_1110del	NP_001350447.1:p.Leu367TrpfsTer2
XM_017016377.2:c.888_906del	XP_016871866.1:p.Leu299TrpfsTer2
XM_017016378.2:c.708_726del	XP_016871867.1:p.Leu239TrpfsTer2
NM_018344.6:c.1326_1344del MANE Select	NP_060814.4:p.Leu445TrpfsTer2
NM_001174098.2:c.*555_*573del	NP_001167569.1:n.*555_*573del
NM_001363518.2:c.1092_1110del	NP_001350447.1:p.Leu367TrpfsTer2
NR_033413.2:n.1294_1312del
NR_033414.2:n.1067_1085del