Canonical Allele Identifier: CA2609558669

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362400-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362400_71362401insCC , CM000672.2:g.71362400_71362401insCC	GRCh38
NC_000010.10:g.73122157_73122158insCC , CM000672.1:g.73122157_73122158insCC	GRCh37
NC_000010.9:g.72792163_72792164insCC	NCBI36
NG_017066.1:g.48148_48149insCC
NG_017066.2:g.48142_48143insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2696_2697insCC
ENST00000373189.6:c.1220_1221insCC MANE Select	ENSP00000362285.5:p.Val408ArgfsTer?
ENST00000479577.2:c.986_987insCC	ENSP00000493995.1:p.Val330ArgfsTer?
ENST00000642198.1:c.*792_*793insCC	ENSP00000494827.1:n.*792_*793insCC
ENST00000642772.1:c.*94+6157_*94+6158insCC	ENSP00000495041.1:n.*94+6157_*94+6158insC...
ENST00000643042.1:c.841_842insCC	ENSP00000496674.1:n.841_842insCC
ENST00000643619.1:c.*803_*804insCC	ENSP00000494378.1:n.*803_*804insCC
ENST00000643752.1:c.*546_*547insCC	ENSP00000495000.1:n.*546_*547insCC
ENST00000644088.1:c.*541_*542insCC	ENSP00000494066.1:n.*541_*542insCC
ENST00000644591.1:c.*546_*547insCC	ENSP00000496664.1:n.*546_*547insCC
ENST00000644895.1:c.*99+6157_*99+6158insCC	ENSP00000493872.1:n.*99+6157_*99+6158insC...
ENST00000645345.1:c.*792_*793insCC	ENSP00000495859.1:n.*792_*793insCC
ENST00000647524.1:c.*803_*804insCC	ENSP00000495077.1:n.*803_*804insCC
ENST00000373189.5:c.1220_1221insCC	ENSP00000362285.5:p.Val408ArgfsTer?
ENST00000469204.1:n.717_718insCC
NM_001174098.1:c.*449_*450insCC	NP_001167569.1:n.*449_*450insCC
NM_018344.5:c.1220_1221insCC	NP_060814.4:p.Val408ArgfsTer?
NR_033413.1:n.1194_1195insCC
NR_033414.1:n.967_968insCC
XM_006717910.2:c.986_987insCC	XP_006717973.1:p.Val330ArgfsTer?
NM_001363518.1:c.986_987insCC	NP_001350447.1:p.Val330ArgfsTer?
XM_017016377.2:c.782_783insCC	XP_016871866.1:p.Val262ArgfsTer?
XM_017016378.2:c.602_603insCC	XP_016871867.1:p.Val202ArgfsTer?
NM_018344.6:c.1220_1221insCC MANE Select	NP_060814.4:p.Val408ArgfsTer?
NM_001174098.2:c.*449_*450insCC	NP_001167569.1:n.*449_*450insCC
NM_001363518.2:c.986_987insCC	NP_001350447.1:p.Val330ArgfsTer?
NR_033413.2:n.1188_1189insCC
NR_033414.2:n.961_962insCC