Canonical Allele Identifier: CA645567930
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362060del , CM000672.2:g.71362060del GRCh38
NC_000010.10:g.73121817del , CM000672.1:g.73121817del GRCh37
NC_000010.9:g.72791823del NCBI36
NG_017066.1:g.47808del
NG_017066.2:g.47802del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2356del
ENST00000373189.6:c.880del MANE Select ENSP00000362285.5:p.His294ThrfsTer9
ENST00000479577.2:c.646del ENSP00000493995.1:p.His216ThrfsTer9
ENST00000642198.1:c.*452del ENSP00000494827.1:n.*452del
ENST00000642772.1:c.*94+5817del ENSP00000495041.1:n.*94+5817del
ENST00000643042.1:c.501del ENSP00000496674.1:n.501del
ENST00000643619.1:c.*463del ENSP00000494378.1:n.*463del
ENST00000643752.1:c.*206del ENSP00000495000.1:n.*206del
ENST00000644088.1:c.*201del ENSP00000494066.1:n.*201del
ENST00000644591.1:c.*206del ENSP00000496664.1:n.*206del
ENST00000644895.1:c.*99+5817del ENSP00000493872.1:n.*99+5817del
ENST00000645345.1:c.*452del ENSP00000495859.1:n.*452del
ENST00000647524.1:c.*463del ENSP00000495077.1:n.*463del
ENST00000373189.5:c.880del ENSP00000362285.5:p.His294ThrfsTer9
ENST00000469204.1:n.377del
NM_001174098.1:c.*109del NP_001167569.1:n.*109del
NM_018344.5:c.880del NP_060814.4:p.His294ThrfsTer9
NR_033413.1:n.854del
NR_033414.1:n.627del
XM_006717910.2:c.646del XP_006717973.1:p.His216ThrfsTer9
NM_001363518.1:c.646del NP_001350447.1:p.His216ThrfsTer9
XM_017016377.2:c.442del XP_016871866.1:p.His148ThrfsTer9
XM_017016378.2:c.262del XP_016871867.1:p.His88ThrfsTer9
NM_018344.6:c.880del MANE Select NP_060814.4:p.His294ThrfsTer9
NM_001174098.2:c.*109del NP_001167569.1:n.*109del
NM_001363518.2:c.646del NP_001350447.1:p.His216ThrfsTer9
NR_033413.2:n.848del
NR_033414.2:n.621del