Canonical Allele Identifier: CA594705531

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1248967498
• gnomAD v2: 10-73122396-GAGCCTTTGA-G
• gnomAD v4: 10-71362639-GAGCCTTTGA-G
• MyVariant Identifiers: chr10:g.73122397_73122405del (hg19) ; chr10:g.71362640_71362648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362642_71362650del , CM000672.2:g.71362642_71362650del	GRCh38
NC_000010.10:g.73122399_73122407del , CM000672.1:g.73122399_73122407del	GRCh37
NC_000010.9:g.72792405_72792413del	NCBI36
NG_017066.1:g.48390_48398del
NG_017066.2:g.48384_48392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2938_2946del
ENST00000373189.6:c.*34_*42del MANE Select	ENSP00000362285.5:n.*34_*42del
ENST00000479577.2:c.*34_*42del	ENSP00000493995.1:n.*34_*42del
ENST00000642198.1:c.*1034_*1042del	ENSP00000494827.1:n.*1034_*1042del
ENST00000642772.1:c.*94+6399_*94+6407del	ENSP00000495041.1:n.*94+6399_*94+6407del
ENST00000643042.1:c.1083_1091del	ENSP00000496674.1:n.1083_1091del
ENST00000643619.1:c.*1045_*1053del	ENSP00000494378.1:n.*1045_*1053del
ENST00000643752.1:c.*788_*796del	ENSP00000495000.1:n.*788_*796del
ENST00000644088.1:c.*783_*791del	ENSP00000494066.1:n.*783_*791del
ENST00000644591.1:c.*788_*796del	ENSP00000496664.1:n.*788_*796del
ENST00000644895.1:c.*99+6399_*99+6407del	ENSP00000493872.1:n.*99+6399_*99+6407del
ENST00000645345.1:c.*1034_*1042del	ENSP00000495859.1:n.*1034_*1042del
ENST00000647524.1:c.*1045_*1053del	ENSP00000495077.1:n.*1045_*1053del
ENST00000373189.5:c.*34_*42del	ENSP00000362285.5:n.*34_*42del
NM_001174098.1:c.*691_*699del	NP_001167569.1:n.*691_*699del
NM_018344.5:c.*34_*42del	NP_060814.4:n.*34_*42del
NR_033413.1:n.1436_1444del
NR_033414.1:n.1209_1217del
XM_006717910.2:c.*34_*42del	XP_006717973.1:n.*34_*42del
NM_001363518.1:c.*34_*42del	NP_001350447.1:n.*34_*42del
XM_017016377.2:c.*34_*42del	XP_016871866.1:n.*34_*42del
XM_017016378.2:c.*34_*42del	XP_016871867.1:n.*34_*42del
NM_018344.6:c.*34_*42del MANE Select	NP_060814.4:n.*34_*42del
NM_001174098.2:c.*691_*699del	NP_001167569.1:n.*691_*699del
NM_001363518.2:c.*34_*42del	NP_001350447.1:n.*34_*42del
NR_033413.2:n.1430_1438del
NR_033414.2:n.1203_1211del