Canonical Allele Identifier: CA2609558661

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2776179
• ClinVar RCV Id: RCV003645967
• gnomAD v4: 10-71362123-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362129_71362131del , CM000672.2:g.71362129_71362131del	GRCh38
NC_000010.10:g.73121886_73121888del , CM000672.1:g.73121886_73121888del	GRCh37
NC_000010.9:g.72791892_72791894del	NCBI36
NG_017066.1:g.47877_47879del
NG_017066.2:g.47871_47873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2425_2427del
ENST00000373189.6:c.949_951del MANE Select	ENSP00000362285.5:p.Phe317del
ENST00000479577.2:c.715_717del	ENSP00000493995.1:p.Phe239del
ENST00000642198.1:c.*521_*523del	ENSP00000494827.1:n.*521_*523del
ENST00000642772.1:c.*94+5886_*94+5888del	ENSP00000495041.1:n.*94+5886_*94+5888del
ENST00000643042.1:c.570_572del	ENSP00000496674.1:n.570_572del
ENST00000643619.1:c.*532_*534del	ENSP00000494378.1:n.*532_*534del
ENST00000643752.1:c.*275_*277del	ENSP00000495000.1:n.*275_*277del
ENST00000644088.1:c.*270_*272del	ENSP00000494066.1:n.*270_*272del
ENST00000644591.1:c.*275_*277del	ENSP00000496664.1:n.*275_*277del
ENST00000644895.1:c.*99+5886_*99+5888del	ENSP00000493872.1:n.*99+5886_*99+5888del
ENST00000645345.1:c.*521_*523del	ENSP00000495859.1:n.*521_*523del
ENST00000647524.1:c.*532_*534del	ENSP00000495077.1:n.*532_*534del
ENST00000373189.5:c.949_951del	ENSP00000362285.5:p.Phe317del
ENST00000469204.1:n.446_448del
NM_001174098.1:c.*178_*180del	NP_001167569.1:n.*178_*180del
NM_018344.5:c.949_951del	NP_060814.4:p.Phe317del
NR_033413.1:n.923_925del
NR_033414.1:n.696_698del
XM_006717910.2:c.715_717del	XP_006717973.1:p.Phe239del
NM_001363518.1:c.715_717del	NP_001350447.1:p.Phe239del
XM_017016377.2:c.511_513del	XP_016871866.1:p.Phe171del
XM_017016378.2:c.331_333del	XP_016871867.1:p.Phe111del
NM_018344.6:c.949_951del MANE Select	NP_060814.4:p.Phe317del
NM_001174098.2:c.*178_*180del	NP_001167569.1:n.*178_*180del
NM_001363518.2:c.715_717del	NP_001350447.1:p.Phe239del
NR_033413.2:n.917_919del
NR_033414.2:n.690_692del