Canonical Allele Identifier: CA2580081793

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2086492
• ClinVar RCV Id: RCV002999787

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71344290_71344291del , CM000672.2:g.71344290_71344291del	GRCh38
NC_000010.10:g.73104047_73104048del , CM000672.1:g.73104047_73104048del	GRCh37
NC_000010.9:g.72774053_72774054del	NCBI36
NG_017066.1:g.30038_30039del
NG_017066.2:g.30032_30033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.828_829del
ENST00000373189.6:c.382_383del MANE Select	ENSP00000362285.5:p.Arg128GlyfsTer?
ENST00000479577.2:c.148_149del	ENSP00000493995.1:p.Arg50GlyfsTer?
ENST00000642198.1:c.67-7272_67-7271del	ENSP00000494827.1:n.67-7272_67-7271del
ENST00000642772.1:c.301-11791_301-11790del	ENSP00000495041.1:n.301-11791_301-11790del
ENST00000643042.1:c.232-11791_232-11790del	ENSP00000496674.1:n.232-11791_232-11790del
ENST00000643619.1:c.148_149del	ENSP00000494378.1:p.Arg50GlyfsTer?
ENST00000643752.1:c.382_383del	ENSP00000495000.1:p.Arg128GlufsTer23
ENST00000644088.1:c.301-11791_301-11790del	ENSP00000494066.1:n.301-11791_301-11790del
ENST00000644591.1:c.301-7272_301-7271del	ENSP00000496664.1:n.301-7272_301-7271del
ENST00000644895.1:c.301-7272_301-7271del	ENSP00000493872.1:n.301-7272_301-7271del
ENST00000645345.1:c.301-7272_301-7271del	ENSP00000495859.1:n.301-7272_301-7271del
ENST00000647524.1:c.382_383del	ENSP00000495077.1:p.Arg128GlyfsTer?
ENST00000373189.5:c.382_383del	ENSP00000362285.5:p.Arg128GlyfsTer?
NM_001174098.1:c.382_383del	NP_001167569.1:p.Arg128GlyfsTer?
NM_018344.5:c.382_383del	NP_060814.4:p.Arg128GlyfsTer?
NR_033413.1:n.358-7272_358-7271del
NR_033414.1:n.358-11791_358-11790del
XM_006717910.2:c.148_149del	XP_006717973.1:p.Arg50GlyfsTer?
XR_946051.1:n.626-2910_626-2909del
NM_001363518.1:c.148_149del	NP_001350447.1:p.Arg50GlyfsTer?
XM_017016377.2:c.-55-7272_-55-7271del	XP_016871866.1:n.-55-7272_-55-7271del
XM_017016378.2:c.-8-11791_-8-11790del	XP_016871867.1:n.-8-11791_-8-11790del
XR_001747496.1:n.1552-2910_1552-2909del
XR_946051.2:n.1552-2910_1552-2909del
NM_018344.6:c.382_383del MANE Select	NP_060814.4:p.Arg128GlyfsTer?
NM_001174098.2:c.382_383del	NP_001167569.1:p.Arg128GlyfsTer?
NM_001363518.2:c.148_149del	NP_001350447.1:p.Arg50GlyfsTer?
NR_033413.2:n.352-7272_352-7271del
NR_033414.2:n.352-11791_352-11790del