Canonical Allele Identifier: CA2561386814
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71344279_71344280insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC , CM000672.2:g.71344279_71344280insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC GRCh38
NC_000010.10:g.73104036_73104037insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC , CM000672.1:g.73104036_73104037insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC GRCh37
NC_000010.9:g.72774042_72774043insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC NCBI36
NG_017066.1:g.30027_30028insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC
NG_017066.2:g.30021_30022insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.817_818insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC
ENST00000373189.6:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC MANE Select ENSP00000362285.5:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleI...
ENST00000479577.2:c.137_138insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000493995.1:p.Leu46_Leu47insValIleTyrThrLeuIleLysIleIle...
ENST00000642198.1:c.67-7283_67-7282insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000494827.1:n.67-7283_67-7282insCGTTATCTACACCCTCATCAAAA...
ENST00000642772.1:c.301-11802_301-11801insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000495041.1:n.301-11802_301-11801insCGTTATCTACACCCTCATC...
ENST00000643042.1:c.232-11802_232-11801insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000496674.1:n.232-11802_232-11801insCGTTATCTACACCCTCATC...
ENST00000643619.1:c.137_138insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000494378.1:p.Leu46_Leu47insValIleTyrThrLeuIleLysIleIle...
ENST00000643752.1:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000495000.1:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleI...
ENST00000644088.1:c.301-11802_301-11801insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000494066.1:n.301-11802_301-11801insCGTTATCTACACCCTCATC...
ENST00000644591.1:c.301-7283_301-7282insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000496664.1:n.301-7283_301-7282insCGTTATCTACACCCTCATCAA...
ENST00000644895.1:c.301-7283_301-7282insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000493872.1:n.301-7283_301-7282insCGTTATCTACACCCTCATCAA...
ENST00000645345.1:c.301-7283_301-7282insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000495859.1:n.301-7283_301-7282insCGTTATCTACACCCTCATCAA...
ENST00000647524.1:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000495077.1:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleI...
ENST00000373189.5:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC ENSP00000362285.5:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleI...
NM_001174098.1:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC NP_001167569.1:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleIleP...
NM_018344.5:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC NP_060814.4:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleIleProH...
NR_033413.1:n.358-7283_358-7282insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC
NR_033414.1:n.358-11802_358-11801insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC
XM_006717910.2:c.137_138insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC XP_006717973.1:p.Leu46_Leu47insValIleTyrThrLeuIleLysIleIlePro...
XR_946051.1:n.626-2899_626-2898insGGTACTTCTCCATGGGGGATGATTTTGATGAGGGTGTAGATAACG
NM_001363518.1:c.137_138insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC NP_001350447.1:p.Leu46_Leu47insValIleTyrThrLeuIleLysIleIlePro...
XM_017016377.2:c.-55-7283_-55-7282insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC XP_016871866.1:n.-55-7283_-55-7282insCGTTATCTACACCCTCATCAAAAT...
XM_017016378.2:c.-8-11802_-8-11801insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC XP_016871867.1:n.-8-11802_-8-11801insCGTTATCTACACCCTCATCAAAAT...
XR_001747496.1:n.1552-2899_1552-2898insGGTACTTCTCCATGGGGGATGATTTTGATGAGGGTGTAGATAACG
XR_946051.2:n.1552-2899_1552-2898insGGTACTTCTCCATGGGGGATGATTTTGATGAGGGTGTAGATAACG
NM_018344.6:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC MANE Select NP_060814.4:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleIleProH...
NM_001174098.2:c.371_372insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC NP_001167569.1:p.Leu124_Leu125insValIleTyrThrLeuIleLysIleIleP...
NM_001363518.2:c.137_138insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC NP_001350447.1:p.Leu46_Leu47insValIleTyrThrLeuIleLysIleIlePro...
NR_033413.2:n.352-7283_352-7282insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC
NR_033414.2:n.352-11802_352-11801insCGTTATCTACACCCTCATCAAAATCATCCCCCATGGAGAAGTACC