Canonical Allele Identifier: CA2609558670

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362401-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362401_71362402insC , CM000672.2:g.71362401_71362402insC	GRCh38
NC_000010.10:g.73122158_73122159insC , CM000672.1:g.73122158_73122159insC	GRCh37
NC_000010.9:g.72792164_72792165insC	NCBI36
NG_017066.1:g.48149_48150insC
NG_017066.2:g.48143_48144insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2697_2698insC
ENST00000373189.6:c.1221_1222insC MANE Select	ENSP00000362285.5:p.Val408ArgfsTer?
ENST00000479577.2:c.987_988insC	ENSP00000493995.1:p.Val330ArgfsTer?
ENST00000642198.1:c.*793_*794insC	ENSP00000494827.1:n.*793_*794insC
ENST00000642772.1:c.*94+6158_*94+6159insC	ENSP00000495041.1:n.*94+6158_*94+6159insC
ENST00000643042.1:c.842_843insC	ENSP00000496674.1:n.842_843insC
ENST00000643619.1:c.*804_*805insC	ENSP00000494378.1:n.*804_*805insC
ENST00000643752.1:c.*547_*548insC	ENSP00000495000.1:n.*547_*548insC
ENST00000644088.1:c.*542_*543insC	ENSP00000494066.1:n.*542_*543insC
ENST00000644591.1:c.*547_*548insC	ENSP00000496664.1:n.*547_*548insC
ENST00000644895.1:c.*99+6158_*99+6159insC	ENSP00000493872.1:n.*99+6158_*99+6159insC
ENST00000645345.1:c.*793_*794insC	ENSP00000495859.1:n.*793_*794insC
ENST00000647524.1:c.*804_*805insC	ENSP00000495077.1:n.*804_*805insC
ENST00000373189.5:c.1221_1222insC	ENSP00000362285.5:p.Val408ArgfsTer?
ENST00000469204.1:n.718_719insC
NM_001174098.1:c.*450_*451insC	NP_001167569.1:n.*450_*451insC
NM_018344.5:c.1221_1222insC	NP_060814.4:p.Val408ArgfsTer?
NR_033413.1:n.1195_1196insC
NR_033414.1:n.968_969insC
XM_006717910.2:c.987_988insC	XP_006717973.1:p.Val330ArgfsTer?
NM_001363518.1:c.987_988insC	NP_001350447.1:p.Val330ArgfsTer?
XM_017016377.2:c.783_784insC	XP_016871866.1:p.Val262ArgfsTer?
XM_017016378.2:c.603_604insC	XP_016871867.1:p.Val202ArgfsTer?
NM_018344.6:c.1221_1222insC MANE Select	NP_060814.4:p.Val408ArgfsTer?
NM_001174098.2:c.*450_*451insC	NP_001167569.1:n.*450_*451insC
NM_001363518.2:c.987_988insC	NP_001350447.1:p.Val330ArgfsTer?
NR_033413.2:n.1189_1190insC
NR_033414.2:n.962_963insC