Canonical Allele Identifier: CA2609558679
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362635_71362642del , CM000672.2:g.71362635_71362642del GRCh38
NC_000010.10:g.73122392_73122399del , CM000672.1:g.73122392_73122399del GRCh37
NC_000010.9:g.72792398_72792405del NCBI36
NG_017066.1:g.48383_48390del
NG_017066.2:g.48377_48384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2931_2938del
ENST00000373189.6:c.*27_*34del MANE Select ENSP00000362285.5:n.*27_*34del
ENST00000479577.2:c.*27_*34del ENSP00000493995.1:n.*27_*34del
ENST00000642198.1:c.*1027_*1034del ENSP00000494827.1:n.*1027_*1034del
ENST00000642772.1:c.*94+6392_*94+6399del ENSP00000495041.1:n.*94+6392_*94+6399del
ENST00000643042.1:c.1076_1083del ENSP00000496674.1:n.1076_1083del
ENST00000643619.1:c.*1038_*1045del ENSP00000494378.1:n.*1038_*1045del
ENST00000643752.1:c.*781_*788del ENSP00000495000.1:n.*781_*788del
ENST00000644088.1:c.*776_*783del ENSP00000494066.1:n.*776_*783del
ENST00000644591.1:c.*781_*788del ENSP00000496664.1:n.*781_*788del
ENST00000644895.1:c.*99+6392_*99+6399del ENSP00000493872.1:n.*99+6392_*99+6399del
ENST00000645345.1:c.*1027_*1034del ENSP00000495859.1:n.*1027_*1034del
ENST00000647524.1:c.*1038_*1045del ENSP00000495077.1:n.*1038_*1045del
ENST00000373189.5:c.*27_*34del ENSP00000362285.5:n.*27_*34del
NM_001174098.1:c.*684_*691del NP_001167569.1:n.*684_*691del
NM_018344.5:c.*27_*34del NP_060814.4:n.*27_*34del
NR_033413.1:n.1429_1436del
NR_033414.1:n.1202_1209del
XM_006717910.2:c.*27_*34del XP_006717973.1:n.*27_*34del
NM_001363518.1:c.*27_*34del NP_001350447.1:n.*27_*34del
XM_017016377.2:c.*27_*34del XP_016871866.1:n.*27_*34del
XM_017016378.2:c.*27_*34del XP_016871867.1:n.*27_*34del
NM_018344.6:c.*27_*34del MANE Select NP_060814.4:n.*27_*34del
NM_001174098.2:c.*684_*691del NP_001167569.1:n.*684_*691del
NM_001363518.2:c.*27_*34del NP_001350447.1:n.*27_*34del
NR_033413.2:n.1423_1430del
NR_033414.2:n.1196_1203del