Canonical Allele Identifier: CA2609558672

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362428-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362432_71362434del , CM000672.2:g.71362432_71362434del	GRCh38
NC_000010.10:g.73122189_73122191del , CM000672.1:g.73122189_73122191del	GRCh37
NC_000010.9:g.72792195_72792197del	NCBI36
NG_017066.1:g.48180_48182del
NG_017066.2:g.48174_48176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2728_2730del
ENST00000373189.6:c.1252_1254del MANE Select	ENSP00000362285.5:p.Leu418del
ENST00000479577.2:c.1018_1020del	ENSP00000493995.1:p.Leu340del
ENST00000642198.1:c.*824_*826del	ENSP00000494827.1:n.*824_*826del
ENST00000642772.1:c.*94+6189_*94+6191del	ENSP00000495041.1:n.*94+6189_*94+6191del
ENST00000643042.1:c.873_875del	ENSP00000496674.1:n.873_875del
ENST00000643619.1:c.*835_*837del	ENSP00000494378.1:n.*835_*837del
ENST00000643752.1:c.*578_*580del	ENSP00000495000.1:n.*578_*580del
ENST00000644088.1:c.*573_*575del	ENSP00000494066.1:n.*573_*575del
ENST00000644591.1:c.*578_*580del	ENSP00000496664.1:n.*578_*580del
ENST00000644895.1:c.*99+6189_*99+6191del	ENSP00000493872.1:n.*99+6189_*99+6191del
ENST00000645345.1:c.*824_*826del	ENSP00000495859.1:n.*824_*826del
ENST00000647524.1:c.*835_*837del	ENSP00000495077.1:n.*835_*837del
ENST00000373189.5:c.1252_1254del	ENSP00000362285.5:p.Leu418del
ENST00000469204.1:n.749_751del
NM_001174098.1:c.*481_*483del	NP_001167569.1:n.*481_*483del
NM_018344.5:c.1252_1254del	NP_060814.4:p.Leu418del
NR_033413.1:n.1226_1228del
NR_033414.1:n.999_1001del
XM_006717910.2:c.1018_1020del	XP_006717973.1:p.Leu340del
NM_001363518.1:c.1018_1020del	NP_001350447.1:p.Leu340del
XM_017016377.2:c.814_816del	XP_016871866.1:p.Leu272del
XM_017016378.2:c.634_636del	XP_016871867.1:p.Leu212del
NM_018344.6:c.1252_1254del MANE Select	NP_060814.4:p.Leu418del
NM_001174098.2:c.*481_*483del	NP_001167569.1:n.*481_*483del
NM_001363518.2:c.1018_1020del	NP_001350447.1:p.Leu340del
NR_033413.2:n.1220_1222del
NR_033414.2:n.993_995del