Canonical Allele Identifier: CA594297592

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1169414424
• gnomAD v2: 10-73104074-GGCCTCT-G
• gnomAD v3: 10-71344317-GGCCTCT-G
• gnomAD v4: 10-71344317-GGCCTCT-G
• MyVariant Identifiers: chr10:g.73104075_73104080del (hg19) ; chr10:g.71344318_71344323del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71344322_71344327del , CM000672.2:g.71344322_71344327del	GRCh38
NC_000010.10:g.73104079_73104084del , CM000672.1:g.73104079_73104084del	GRCh37
NC_000010.9:g.72774085_72774090del	NCBI36
NG_017066.1:g.30070_30075del
NG_017066.2:g.30064_30069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.829+31_829+36del
ENST00000373189.6:c.383+31_383+36del MANE Select	ENSP00000362285.5:n.383+31_383+36del
ENST00000479577.2:c.149+31_149+36del	ENSP00000493995.1:n.149+31_149+36del
ENST00000642198.1:c.67-7240_67-7235del	ENSP00000494827.1:n.67-7240_67-7235del
ENST00000642772.1:c.301-11759_301-11754del	ENSP00000495041.1:n.301-11759_301-11754del
ENST00000643042.1:c.232-11759_232-11754del	ENSP00000496674.1:n.232-11759_232-11754del
ENST00000643619.1:c.149+31_149+36del	ENSP00000494378.1:n.149+31_149+36del
ENST00000643752.1:c.383+31_383+36del	ENSP00000495000.1:n.383+31_383+36del
ENST00000644088.1:c.301-11759_301-11754del	ENSP00000494066.1:n.301-11759_301-11754del
ENST00000644591.1:c.301-7240_301-7235del	ENSP00000496664.1:n.301-7240_301-7235del
ENST00000644895.1:c.301-7240_301-7235del	ENSP00000493872.1:n.301-7240_301-7235del
ENST00000645345.1:c.301-7240_301-7235del	ENSP00000495859.1:n.301-7240_301-7235del
ENST00000647524.1:c.383+31_383+36del	ENSP00000495077.1:n.383+31_383+36del
ENST00000373189.5:c.383+31_383+36del	ENSP00000362285.5:n.383+31_383+36del
NM_001174098.1:c.383+31_383+36del	NP_001167569.1:n.383+31_383+36del
NM_018344.5:c.383+31_383+36del	NP_060814.4:n.383+31_383+36del
NR_033413.1:n.358-7240_358-7235del
NR_033414.1:n.358-11759_358-11754del
XM_006717910.2:c.149+31_149+36del	XP_006717973.1:n.149+31_149+36del
XR_946051.1:n.626-2942_626-2937del
NM_001363518.1:c.149+31_149+36del	NP_001350447.1:n.149+31_149+36del
XM_017016377.2:c.-55-7240_-55-7235del	XP_016871866.1:n.-55-7240_-55-7235del
XM_017016378.2:c.-8-11759_-8-11754del	XP_016871867.1:n.-8-11759_-8-11754del
XR_001747496.1:n.1552-2942_1552-2937del
XR_946051.2:n.1552-2942_1552-2937del
NM_018344.6:c.383+31_383+36del MANE Select	NP_060814.4:n.383+31_383+36del
NM_001174098.2:c.383+31_383+36del	NP_001167569.1:n.383+31_383+36del
NM_001363518.2:c.149+31_149+36del	NP_001350447.1:n.149+31_149+36del
NR_033413.2:n.352-7240_352-7235del
NR_033414.2:n.352-11759_352-11754del