Canonical Allele Identifier: CA2609558668
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362393_71362399del , CM000672.2:g.71362393_71362399del GRCh38
NC_000010.10:g.73122150_73122156del , CM000672.1:g.73122150_73122156del GRCh37
NC_000010.9:g.72792156_72792162del NCBI36
NG_017066.1:g.48141_48147del
NG_017066.2:g.48135_48141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2689_2695del
ENST00000373189.6:c.1213_1219del MANE Select ENSP00000362285.5:p.Lys405TrpfsTer?
ENST00000479577.2:c.979_985del ENSP00000493995.1:p.Lys327TrpfsTer?
ENST00000642198.1:c.*785_*791del ENSP00000494827.1:n.*785_*791del
ENST00000642772.1:c.*94+6150_*94+6156del ENSP00000495041.1:n.*94+6150_*94+6156del
ENST00000643042.1:c.834_840del ENSP00000496674.1:n.834_840del
ENST00000643619.1:c.*796_*802del ENSP00000494378.1:n.*796_*802del
ENST00000643752.1:c.*539_*545del ENSP00000495000.1:n.*539_*545del
ENST00000644088.1:c.*534_*540del ENSP00000494066.1:n.*534_*540del
ENST00000644591.1:c.*539_*545del ENSP00000496664.1:n.*539_*545del
ENST00000644895.1:c.*99+6150_*99+6156del ENSP00000493872.1:n.*99+6150_*99+6156del
ENST00000645345.1:c.*785_*791del ENSP00000495859.1:n.*785_*791del
ENST00000647524.1:c.*796_*802del ENSP00000495077.1:n.*796_*802del
ENST00000373189.5:c.1213_1219del ENSP00000362285.5:p.Lys405TrpfsTer?
ENST00000469204.1:n.710_716del
NM_001174098.1:c.*442_*448del NP_001167569.1:n.*442_*448del
NM_018344.5:c.1213_1219del NP_060814.4:p.Lys405TrpfsTer?
NR_033413.1:n.1187_1193del
NR_033414.1:n.960_966del
XM_006717910.2:c.979_985del XP_006717973.1:p.Lys327TrpfsTer?
NM_001363518.1:c.979_985del NP_001350447.1:p.Lys327TrpfsTer?
XM_017016377.2:c.775_781del XP_016871866.1:p.Lys259TrpfsTer?
XM_017016378.2:c.595_601del XP_016871867.1:p.Lys199TrpfsTer?
NM_018344.6:c.1213_1219del MANE Select NP_060814.4:p.Lys405TrpfsTer?
NM_001174098.2:c.*442_*448del NP_001167569.1:n.*442_*448del
NM_001363518.2:c.979_985del NP_001350447.1:p.Lys327TrpfsTer?
NR_033413.2:n.1181_1187del
NR_033414.2:n.954_960del