Canonical Allele Identifier: CA2842985423

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362437_71362438insAGGGAGCTGAGGAGTGCGGGG , CM000672.2:g.71362437_71362438insAGGGAGCTGAGGAGTGCGGGG	GRCh38
NC_000010.10:g.73122194_73122195insAGGGAGCTGAGGAGTGCGGGG , CM000672.1:g.73122194_73122195insAGGGAGCTGAGGAGTGCGGGG	GRCh37
NC_000010.9:g.72792200_72792201insAGGGAGCTGAGGAGTGCGGGG	NCBI36
NG_017066.1:g.48185_48186insAGGGAGCTGAGGAGTGCGGGG
NG_017066.2:g.48179_48180insAGGGAGCTGAGGAGTGCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2733_2734insAGGGAGCTGAGGAGTGCGGGG
ENST00000373189.6:c.1257_1258insAGGGAGCTGAGGAGTGCGGGG MANE Select	ENSP00000362285.5:p.Ser419_Ser420insArgGluLeuArgSerAlaGly
ENST00000479577.2:c.1023_1024insAGGGAGCTGAGGAGTGCGGGG	ENSP00000493995.1:p.Ser341_Ser342insArgGluLeuArgSerAlaGly
ENST00000642198.1:c.*829_*830insAGGGAGCTGAGGAGTGCGGGG	ENSP00000494827.1:n.*829_*830insAGGGAGCTGAGGAGTGCGGGG
ENST00000642772.1:c.*94+6194_*94+6195insAGGGAGCTGAGGAGTGCGGGG	ENSP00000495041.1:n.*94+6194_*94+6195insAGGGAGCTGAGGAGTGCGGGG...
ENST00000643042.1:c.878_879insAGGGAGCTGAGGAGTGCGGGG	ENSP00000496674.1:n.878_879insAGGGAGCTGAGGAGTGCGGGG
ENST00000643619.1:c.*840_*841insAGGGAGCTGAGGAGTGCGGGG	ENSP00000494378.1:n.*840_*841insAGGGAGCTGAGGAGTGCGGGG
ENST00000643752.1:c.*583_*584insAGGGAGCTGAGGAGTGCGGGG	ENSP00000495000.1:n.*583_*584insAGGGAGCTGAGGAGTGCGGGG
ENST00000644088.1:c.*578_*579insAGGGAGCTGAGGAGTGCGGGG	ENSP00000494066.1:n.*578_*579insAGGGAGCTGAGGAGTGCGGGG
ENST00000644591.1:c.*583_*584insAGGGAGCTGAGGAGTGCGGGG	ENSP00000496664.1:n.*583_*584insAGGGAGCTGAGGAGTGCGGGG
ENST00000644895.1:c.*99+6194_*99+6195insAGGGAGCTGAGGAGTGCGGGG	ENSP00000493872.1:n.*99+6194_*99+6195insAGGGAGCTGAGGAGTGCGGGG...
ENST00000645345.1:c.*829_*830insAGGGAGCTGAGGAGTGCGGGG	ENSP00000495859.1:n.*829_*830insAGGGAGCTGAGGAGTGCGGGG
ENST00000647524.1:c.*840_*841insAGGGAGCTGAGGAGTGCGGGG	ENSP00000495077.1:n.*840_*841insAGGGAGCTGAGGAGTGCGGGG
ENST00000373189.5:c.1257_1258insAGGGAGCTGAGGAGTGCGGGG	ENSP00000362285.5:p.Ser419_Ser420insArgGluLeuArgSerAlaGly
ENST00000469204.1:n.754_755insAGGGAGCTGAGGAGTGCGGGG
NM_001174098.1:c.*486_*487insAGGGAGCTGAGGAGTGCGGGG	NP_001167569.1:n.*486_*487insAGGGAGCTGAGGAGTGCGGGG
NM_018344.5:c.1257_1258insAGGGAGCTGAGGAGTGCGGGG	NP_060814.4:p.Ser419_Ser420insArgGluLeuArgSerAlaGly
NR_033413.1:n.1231_1232insAGGGAGCTGAGGAGTGCGGGG
NR_033414.1:n.1004_1005insAGGGAGCTGAGGAGTGCGGGG
XM_006717910.2:c.1023_1024insAGGGAGCTGAGGAGTGCGGGG	XP_006717973.1:p.Ser341_Ser342insArgGluLeuArgSerAlaGly
NM_001363518.1:c.1023_1024insAGGGAGCTGAGGAGTGCGGGG	NP_001350447.1:p.Ser341_Ser342insArgGluLeuArgSerAlaGly
XM_017016377.2:c.819_820insAGGGAGCTGAGGAGTGCGGGG	XP_016871866.1:p.Ser273_Ser274insArgGluLeuArgSerAlaGly
XM_017016378.2:c.639_640insAGGGAGCTGAGGAGTGCGGGG	XP_016871867.1:p.Ser213_Ser214insArgGluLeuArgSerAlaGly
NM_018344.6:c.1257_1258insAGGGAGCTGAGGAGTGCGGGG MANE Select	NP_060814.4:p.Ser419_Ser420insArgGluLeuArgSerAlaGly
NM_001174098.2:c.*486_*487insAGGGAGCTGAGGAGTGCGGGG	NP_001167569.1:n.*486_*487insAGGGAGCTGAGGAGTGCGGGG
NM_001363518.2:c.1023_1024insAGGGAGCTGAGGAGTGCGGGG	NP_001350447.1:p.Ser341_Ser342insArgGluLeuArgSerAlaGly
NR_033413.2:n.1225_1226insAGGGAGCTGAGGAGTGCGGGG
NR_033414.2:n.998_999insAGGGAGCTGAGGAGTGCGGGG