Canonical Allele Identifier: CA2695212093

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362070dup , CM000672.2:g.71362070dup	GRCh38
NC_000010.10:g.73121827dup , CM000672.1:g.73121827dup	GRCh37
NC_000010.9:g.72791833dup	NCBI36
NG_017066.1:g.47818dup
NG_017066.2:g.47812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2366dup
ENST00000373189.6:c.890dup MANE Select	ENSP00000362285.5:p.Leu298SerfsTer?
ENST00000479577.2:c.656dup	ENSP00000493995.1:p.Leu220SerfsTer?
ENST00000642198.1:c.*462dup	ENSP00000494827.1:n.*462dup
ENST00000642772.1:c.*94+5827dup	ENSP00000495041.1:n.*94+5827dup
ENST00000643042.1:c.511dup	ENSP00000496674.1:n.511dup
ENST00000643619.1:c.*473dup	ENSP00000494378.1:n.*473dup
ENST00000643752.1:c.*216dup	ENSP00000495000.1:n.*216dup
ENST00000644088.1:c.*211dup	ENSP00000494066.1:n.*211dup
ENST00000644591.1:c.*216dup	ENSP00000496664.1:n.*216dup
ENST00000644895.1:c.*99+5827dup	ENSP00000493872.1:n.*99+5827dup
ENST00000645345.1:c.*462dup	ENSP00000495859.1:n.*462dup
ENST00000647524.1:c.*473dup	ENSP00000495077.1:n.*473dup
ENST00000373189.5:c.890dup	ENSP00000362285.5:p.Leu298SerfsTer?
ENST00000469204.1:n.387dup
NM_001174098.1:c.*119dup	NP_001167569.1:n.*119dup
NM_018344.5:c.890dup	NP_060814.4:p.Leu298SerfsTer?
NR_033413.1:n.864dup
NR_033414.1:n.637dup
XM_006717910.2:c.656dup	XP_006717973.1:p.Leu220SerfsTer?
NM_001363518.1:c.656dup	NP_001350447.1:p.Leu220SerfsTer?
XM_017016377.2:c.452dup	XP_016871866.1:p.Leu152SerfsTer?
XM_017016378.2:c.272dup	XP_016871867.1:p.Leu92SerfsTer?
NM_018344.6:c.890dup MANE Select	NP_060814.4:p.Leu298SerfsTer?
NM_001174098.2:c.*119dup	NP_001167569.1:n.*119dup
NM_001363518.2:c.656dup	NP_001350447.1:p.Leu220SerfsTer?
NR_033413.2:n.858dup
NR_033414.2:n.631dup