Canonical Allele Identifier: CA1918670573
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71344278_71344279delinsCT , CM000672.2:g.71344278_71344279delinsCT GRCh38
NC_000010.10:g.73104035_73104036delinsCT , CM000672.1:g.73104035_73104036delinsCT GRCh37
NC_000010.9:g.72774041_72774042delinsCT NCBI36
NG_017066.1:g.30026_30027delinsCT
NG_017066.2:g.30020_30021delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.816_817delinsCT
ENST00000373189.6:c.370_371delinsCT MANE Select ENSP00000362285.5:p.Leu124=
ENST00000479577.2:c.136_137delinsCT ENSP00000493995.1:p.Leu46=
ENST00000642198.1:c.67-7284_67-7283delinsCT ENSP00000494827.1:n.67-7284_67-7283delinsCT
ENST00000642772.1:c.301-11803_301-11802delinsCT ENSP00000495041.1:n.301-11803_301-11802delinsCT
ENST00000643042.1:c.232-11803_232-11802delinsCT ENSP00000496674.1:n.232-11803_232-11802delinsCT
ENST00000643619.1:c.136_137delinsCT ENSP00000494378.1:p.Leu46=
ENST00000643752.1:c.370_371delinsCT ENSP00000495000.1:p.Leu124=
ENST00000644088.1:c.301-11803_301-11802delinsCT ENSP00000494066.1:n.301-11803_301-11802delinsCT
ENST00000644591.1:c.301-7284_301-7283delinsCT ENSP00000496664.1:n.301-7284_301-7283delinsCT
ENST00000644895.1:c.301-7284_301-7283delinsCT ENSP00000493872.1:n.301-7284_301-7283delinsCT
ENST00000645345.1:c.301-7284_301-7283delinsCT ENSP00000495859.1:n.301-7284_301-7283delinsCT
ENST00000647524.1:c.370_371delinsCT ENSP00000495077.1:p.Leu124=
ENST00000373189.5:c.370_371delinsCT ENSP00000362285.5:p.Leu124=
NM_001174098.1:c.370_371delinsCT NP_001167569.1:p.Leu124=
NM_018344.5:c.370_371delinsCT NP_060814.4:p.Leu124=
NR_033413.1:n.358-7284_358-7283delinsCT
NR_033414.1:n.358-11803_358-11802delinsCT
XM_006717910.2:c.136_137delinsCT XP_006717973.1:p.Leu46=
XR_946051.1:n.626-2898_626-2897delinsAG
NM_001363518.1:c.136_137delinsCT NP_001350447.1:p.Leu46=
XM_017016377.2:c.-55-7284_-55-7283delinsCT XP_016871866.1:n.-55-7284_-55-7283delinsCT
XM_017016378.2:c.-8-11803_-8-11802delinsCT XP_016871867.1:n.-8-11803_-8-11802delinsCT
XR_001747496.1:n.1552-2898_1552-2897delinsAG
XR_946051.2:n.1552-2898_1552-2897delinsAG
NM_018344.6:c.370_371delinsCT MANE Select NP_060814.4:p.Leu124=
NM_001174098.2:c.370_371delinsCT NP_001167569.1:p.Leu124=
NM_001363518.2:c.136_137delinsCT NP_001350447.1:p.Leu46=
NR_033413.2:n.352-7284_352-7283delinsCT
NR_033414.2:n.352-11803_352-11802delinsCT