Canonical Allele Identifier: CA2556013402

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362678_71362679del , CM000672.2:g.71362678_71362679del	GRCh38
NC_000010.10:g.73122435_73122436del , CM000672.1:g.73122435_73122436del	GRCh37
NC_000010.9:g.72792441_72792442del	NCBI36
NG_017066.1:g.48426_48427del
NG_017066.2:g.48420_48421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2974_2975del
ENST00000373189.6:c.*70_*71del MANE Select	ENSP00000362285.5:n.*70_*71del
ENST00000479577.2:c.*70_*71del	ENSP00000493995.1:n.*70_*71del
ENST00000642198.1:c.*1070_*1071del	ENSP00000494827.1:n.*1070_*1071del
ENST00000642772.1:c.*94+6435_*94+6436del	ENSP00000495041.1:n.*94+6435_*94+6436del
ENST00000643042.1:c.1119_1120del	ENSP00000496674.1:n.1119_1120del
ENST00000643619.1:c.*1081_*1082del	ENSP00000494378.1:n.*1081_*1082del
ENST00000643752.1:c.*824_*825del	ENSP00000495000.1:n.*824_*825del
ENST00000644088.1:c.*819_*820del	ENSP00000494066.1:n.*819_*820del
ENST00000644591.1:c.*824_*825del	ENSP00000496664.1:n.*824_*825del
ENST00000644895.1:c.*99+6435_*99+6436del	ENSP00000493872.1:n.*99+6435_*99+6436del
ENST00000645345.1:c.*1070_*1071del	ENSP00000495859.1:n.*1070_*1071del
ENST00000647524.1:c.*1081_*1082del	ENSP00000495077.1:n.*1081_*1082del
ENST00000373189.5:c.*70_*71del	ENSP00000362285.5:n.*70_*71del
NM_001174098.1:c.*727_*728del	NP_001167569.1:n.*727_*728del
NM_018344.5:c.*70_*71del	NP_060814.4:n.*70_*71del
NR_033413.1:n.1472_1473del
NR_033414.1:n.1245_1246del
XM_006717910.2:c.*70_*71del	XP_006717973.1:n.*70_*71del
NM_001363518.1:c.*70_*71del	NP_001350447.1:n.*70_*71del
XM_017016377.2:c.*70_*71del	XP_016871866.1:n.*70_*71del
XM_017016378.2:c.*70_*71del	XP_016871867.1:n.*70_*71del
NM_018344.6:c.*70_*71del MANE Select	NP_060814.4:n.*70_*71del
NM_001174098.2:c.*727_*728del	NP_001167569.1:n.*727_*728del
NM_001363518.2:c.*70_*71del	NP_001350447.1:n.*70_*71del
NR_033413.2:n.1466_1467del
NR_033414.2:n.1239_1240del