Canonical Allele Identifier: CA645547355

Gene: SLC29A3

Linked Data

• COSMIC: COSM5702013

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362519_71362520delinsTT , CM000672.2:g.71362519_71362520delinsTT	GRCh38
NC_000010.10:g.73122276_73122277delinsTT , CM000672.1:g.73122276_73122277delinsTT	GRCh37
NC_000010.9:g.72792282_72792283delinsTT	NCBI36
NG_017066.1:g.48267_48268delinsTT
NG_017066.2:g.48261_48262delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2815_2816delinsTT
ENST00000373189.6:c.1339_1340delinsTT MANE Select	ENSP00000362285.5:p.Glu447Leu
ENST00000479577.2:c.1105_1106delinsTT	ENSP00000493995.1:p.Glu369Leu
ENST00000642198.1:c.*911_*912delinsTT	ENSP00000494827.1:n.*911_*912delinsTT
ENST00000642772.1:c.*94+6276_*94+6277delinsTT	ENSP00000495041.1:n.*94+6276_*94+6277delinsTT
ENST00000643042.1:c.960_961delinsTT	ENSP00000496674.1:n.960_961delinsTT
ENST00000643619.1:c.*922_*923delinsTT	ENSP00000494378.1:n.*922_*923delinsTT
ENST00000643752.1:c.*665_*666delinsTT	ENSP00000495000.1:n.*665_*666delinsTT
ENST00000644088.1:c.*660_*661delinsTT	ENSP00000494066.1:n.*660_*661delinsTT
ENST00000644591.1:c.*665_*666delinsTT	ENSP00000496664.1:n.*665_*666delinsTT
ENST00000644895.1:c.*99+6276_*99+6277delinsTT	ENSP00000493872.1:n.*99+6276_*99+6277delinsTT
ENST00000645345.1:c.*911_*912delinsTT	ENSP00000495859.1:n.*911_*912delinsTT
ENST00000647524.1:c.*922_*923delinsTT	ENSP00000495077.1:n.*922_*923delinsTT
ENST00000373189.5:c.1339_1340delinsTT	ENSP00000362285.5:p.Glu447Leu
NM_001174098.1:c.*568_*569delinsTT	NP_001167569.1:n.*568_*569delinsTT
NM_018344.5:c.1339_1340delinsTT	NP_060814.4:p.Glu447Leu
NR_033413.1:n.1313_1314delinsTT
NR_033414.1:n.1086_1087delinsTT
XM_006717910.2:c.1105_1106delinsTT	XP_006717973.1:p.Glu369Leu
NM_001363518.1:c.1105_1106delinsTT	NP_001350447.1:p.Glu369Leu
XM_017016377.2:c.901_902delinsTT	XP_016871866.1:p.Glu301Leu
XM_017016378.2:c.721_722delinsTT	XP_016871867.1:p.Glu241Leu
NM_018344.6:c.1339_1340delinsTT MANE Select	NP_060814.4:p.Glu447Leu
NM_001174098.2:c.*568_*569delinsTT	NP_001167569.1:n.*568_*569delinsTT
NM_001363518.2:c.1105_1106delinsTT	NP_001350447.1:p.Glu369Leu
NR_033413.2:n.1307_1308delinsTT
NR_033414.2:n.1080_1081delinsTT