Canonical Allele Identifier: CA2722101957

Gene: SLC29A3

Linked Data

• dbSNP Id: rs2131851878

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362326del , CM000672.2:g.71362326del	GRCh38
NC_000010.10:g.73122083del , CM000672.1:g.73122083del	GRCh37
NC_000010.9:g.72792089del	NCBI36
NG_017066.1:g.48074del
NG_017066.2:g.48068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2622del
ENST00000373189.6:c.1146del MANE Select	ENSP00000362285.5:p.Phe382LeufsTer23
ENST00000479577.2:c.912del	ENSP00000493995.1:p.Phe304LeufsTer23
ENST00000642198.1:c.*718del	ENSP00000494827.1:n.*718del
ENST00000642772.1:c.*94+6083del	ENSP00000495041.1:n.*94+6083del
ENST00000643042.1:c.767del	ENSP00000496674.1:n.767del
ENST00000643619.1:c.*729del	ENSP00000494378.1:n.*729del
ENST00000643752.1:c.*472del	ENSP00000495000.1:n.*472del
ENST00000644088.1:c.*467del	ENSP00000494066.1:n.*467del
ENST00000644591.1:c.*472del	ENSP00000496664.1:n.*472del
ENST00000644895.1:c.*99+6083del	ENSP00000493872.1:n.*99+6083del
ENST00000645345.1:c.*718del	ENSP00000495859.1:n.*718del
ENST00000647524.1:c.*729del	ENSP00000495077.1:n.*729del
ENST00000373189.5:c.1146del	ENSP00000362285.5:p.Phe382LeufsTer23
ENST00000469204.1:n.643del
NM_001174098.1:c.*375del	NP_001167569.1:n.*375del
NM_018344.5:c.1146del	NP_060814.4:p.Phe382LeufsTer23
NR_033413.1:n.1120del
NR_033414.1:n.893del
XM_006717910.2:c.912del	XP_006717973.1:p.Phe304LeufsTer23
NM_001363518.1:c.912del	NP_001350447.1:p.Phe304LeufsTer23
XM_017016377.2:c.708del	XP_016871866.1:p.Phe236LeufsTer23
XM_017016378.2:c.528del	XP_016871867.1:p.Phe176LeufsTer23
NM_018344.6:c.1146del MANE Select	NP_060814.4:p.Phe382LeufsTer23
NM_001174098.2:c.*375del	NP_001167569.1:n.*375del
NM_001363518.2:c.912del	NP_001350447.1:p.Phe304LeufsTer23
NR_033413.2:n.1114del
NR_033414.2:n.887del