Canonical Allele Identifier: CA929767535

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847090758
• gnomAD v3: 10-71362455-CA-C
• gnomAD v4: 10-71362455-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362457del , CM000672.2:g.71362457del	GRCh38
NC_000010.10:g.73122214del , CM000672.1:g.73122214del	GRCh37
NC_000010.9:g.72792220del	NCBI36
NG_017066.1:g.48205del
NG_017066.2:g.48199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2753del
ENST00000373189.6:c.1277del MANE Select	ENSP00000362285.5:p.Asn426ThrfsTer27
ENST00000479577.2:c.1043del	ENSP00000493995.1:p.Asn348ThrfsTer27
ENST00000642198.1:c.*849del	ENSP00000494827.1:n.*849del
ENST00000642772.1:c.*94+6214del	ENSP00000495041.1:n.*94+6214del
ENST00000643042.1:c.898del	ENSP00000496674.1:n.898del
ENST00000643619.1:c.*860del	ENSP00000494378.1:n.*860del
ENST00000643752.1:c.*603del	ENSP00000495000.1:n.*603del
ENST00000644088.1:c.*598del	ENSP00000494066.1:n.*598del
ENST00000644591.1:c.*603del	ENSP00000496664.1:n.*603del
ENST00000644895.1:c.*99+6214del	ENSP00000493872.1:n.*99+6214del
ENST00000645345.1:c.*849del	ENSP00000495859.1:n.*849del
ENST00000647524.1:c.*860del	ENSP00000495077.1:n.*860del
ENST00000373189.5:c.1277del	ENSP00000362285.5:p.Asn426ThrfsTer27
ENST00000469204.1:n.774del
NM_001174098.1:c.*506del	NP_001167569.1:n.*506del
NM_018344.5:c.1277del	NP_060814.4:p.Asn426ThrfsTer27
NR_033413.1:n.1251del
NR_033414.1:n.1024del
XM_006717910.2:c.1043del	XP_006717973.1:p.Asn348ThrfsTer27
NM_001363518.1:c.1043del	NP_001350447.1:p.Asn348ThrfsTer27
XM_017016377.2:c.839del	XP_016871866.1:p.Asn280ThrfsTer27
XM_017016378.2:c.659del	XP_016871867.1:p.Asn220ThrfsTer27
NM_018344.6:c.1277del MANE Select	NP_060814.4:p.Asn426ThrfsTer27
NM_001174098.2:c.*506del	NP_001167569.1:n.*506del
NM_001363518.2:c.1043del	NP_001350447.1:p.Asn348ThrfsTer27
NR_033413.2:n.1245del
NR_033414.2:n.1018del