Canonical Allele Identifier: CA2609558667

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362343-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362345del , CM000672.2:g.71362345del	GRCh38
NC_000010.10:g.73122102del , CM000672.1:g.73122102del	GRCh37
NC_000010.9:g.72792108del	NCBI36
NG_017066.1:g.48093del
NG_017066.2:g.48087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2641del
ENST00000373189.6:c.1165del MANE Select	ENSP00000362285.5:p.Leu389SerfsTer16
ENST00000479577.2:c.931del	ENSP00000493995.1:p.Leu311SerfsTer16
ENST00000642198.1:c.*737del	ENSP00000494827.1:n.*737del
ENST00000642772.1:c.*94+6102del	ENSP00000495041.1:n.*94+6102del
ENST00000643042.1:c.786del	ENSP00000496674.1:n.786del
ENST00000643619.1:c.*748del	ENSP00000494378.1:n.*748del
ENST00000643752.1:c.*491del	ENSP00000495000.1:n.*491del
ENST00000644088.1:c.*486del	ENSP00000494066.1:n.*486del
ENST00000644591.1:c.*491del	ENSP00000496664.1:n.*491del
ENST00000644895.1:c.*99+6102del	ENSP00000493872.1:n.*99+6102del
ENST00000645345.1:c.*737del	ENSP00000495859.1:n.*737del
ENST00000647524.1:c.*748del	ENSP00000495077.1:n.*748del
ENST00000373189.5:c.1165del	ENSP00000362285.5:p.Leu389SerfsTer16
ENST00000469204.1:n.662del
NM_001174098.1:c.*394del	NP_001167569.1:n.*394del
NM_018344.5:c.1165del	NP_060814.4:p.Leu389SerfsTer16
NR_033413.1:n.1139del
NR_033414.1:n.912del
XM_006717910.2:c.931del	XP_006717973.1:p.Leu311SerfsTer16
NM_001363518.1:c.931del	NP_001350447.1:p.Leu311SerfsTer16
XM_017016377.2:c.727del	XP_016871866.1:p.Leu243SerfsTer16
XM_017016378.2:c.547del	XP_016871867.1:p.Leu183SerfsTer16
NM_018344.6:c.1165del MANE Select	NP_060814.4:p.Leu389SerfsTer16
NM_001174098.2:c.*394del	NP_001167569.1:n.*394del
NM_001363518.2:c.931del	NP_001350447.1:p.Leu311SerfsTer16
NR_033413.2:n.1133del
NR_033414.2:n.906del