Canonical Allele Identifier: CA765747068

Gene: SLC19A3

Linked Data

• dbSNP Id: rs1240447790
• MyVariant Identifiers: chr2:g.228552802_228552804del (hg19) ; chr2:g.227688086_227688088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227688088_227688090del , CM000664.2:g.227688088_227688090del	GRCh38
NC_000002.11:g.228552804_228552806del , CM000664.1:g.228552804_228552806del	GRCh37
NC_000002.10:g.228261048_228261050del	NCBI36
NG_016359.1:g.34942_34944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258403.8:c.1314+78_1314+80del	ENSP00000258403.3:n.1314+78_1314+80del
ENST00000425817.6:c.*1339+78_*1339+80del	ENSP00000397393.2:n.*1339+78_*1339+80del
ENST00000431622.6:c.*1339+78_*1339+80del	ENSP00000400627.1:n.*1339+78_*1339+80del
ENST00000642268.1:n.1504+78_1504+80del
ENST00000644224.2:c.1314+78_1314+80del MANE Select	ENSP00000495385.1:n.1314+78_1314+80del
ENST00000645700.1:c.*425+78_*425+80del	ENSP00000495372.1:n.*425+78_*425+80del
ENST00000645923.1:c.*508+78_*508+80del	ENSP00000495010.1:n.*508+78_*508+80del
ENST00000646591.1:c.1350+78_1350+80del	ENSP00000496701.1:n.1350+78_1350+80del
ENST00000647113.1:c.*302+78_*302+80del	ENSP00000494966.1:n.*302+78_*302+80del
ENST00000676066.1:n.1044+78_1044+80del
ENST00000258403.7:c.1314+78_1314+80del	ENSP00000258403.3:n.1314+78_1314+80del
ENST00000409287.5:c.260-1919_260-1917del	ENSP00000386298.1:n.260-1919_260-1917del
ENST00000425817.5:c.1314+78_1314+80del	ENSP00000397393.1:n.1314+78_1314+80del
NM_025243.3:c.1314+78_1314+80del	NP_079519.1:n.1314+78_1314+80del
XM_005246874.2:c.1302+78_1302+80del	XP_005246931.1:n.1302+78_1302+80del
XM_006712779.2:c.1329+78_1329+80del	XP_006712842.1:n.1329+78_1329+80del
XM_011511931.1:c.1350+78_1350+80del	XP_011510233.1:n.1350+78_1350+80del
XM_011511932.1:c.1314+78_1314+80del	XP_011510234.1:n.1314+78_1314+80del
XM_011511933.1:c.1314+78_1314+80del	XP_011510235.1:n.1314+78_1314+80del
XM_005246874.3:c.1302+78_1302+80del	XP_005246931.1:n.1302+78_1302+80del
XM_011511931.2:c.1350+78_1350+80del	XP_011510233.1:n.1350+78_1350+80del
XM_017005030.1:c.1554+78_1554+80del	XP_016860519.1:n.1554+78_1554+80del
XM_017005031.1:c.1533+78_1533+80del	XP_016860520.1:n.1533+78_1533+80del
XM_017005032.1:c.1518+78_1518+80del	XP_016860521.1:n.1518+78_1518+80del
XM_017005033.1:c.1518+78_1518+80del	XP_016860522.1:n.1518+78_1518+80del
XM_017005034.2:c.1518+78_1518+80del	XP_016860523.1:n.1518+78_1518+80del
NM_025243.4:c.1314+78_1314+80del MANE Select	NP_079519.1:n.1314+78_1314+80del
NM_001371411.1:c.1314+78_1314+80del	NP_001358340.1:n.1314+78_1314+80del
NM_001371412.1:c.1314+78_1314+80del	NP_001358341.1:n.1314+78_1314+80del
NM_001371413.1:c.1302+78_1302+80del	NP_001358342.1:n.1302+78_1302+80del
NM_001371414.1:c.1302+78_1302+80del	NP_001358343.1:n.1302+78_1302+80del