Canonical Allele Identifier: CA1539424662
Gene: SLC1A3 HGNC NCBI

Linked Data

dbSNP Id: rs1742693724

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36687352_36687353del , CM000667.2:g.36687352_36687353del GRCh38
NC_000005.9:g.36687454_36687455del , CM000667.1:g.36687454_36687455del GRCh37
NC_000005.8:g.36723211_36723212del NCBI36
NG_015890.1:g.85998_85999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265113.9:c.*1083_*1084del MANE Select ENSP00000265113.4:n.*1083_*1084del
ENST00000381918.4:c.*1083_*1084del ENSP00000371343.4:n.*1083_*1084del
ENST00000612708.5:c.*1083_*1084del ENSP00000483657.1:n.*1083_*1084del
ENST00000613445.5:c.*1083_*1084del ENSP00000477672.1:n.*1083_*1084del
ENST00000624112.2:n.5705_5706del
ENST00000679784.1:c.*2624_*2625del ENSP00000506030.1:n.*2624_*2625del
ENST00000679852.1:c.1522_1523del
ENST00000679958.1:c.*1205_*1206del ENSP00000505246.1:n.*1205_*1206del
ENST00000679983.1:c.*1083_*1084del ENSP00000505238.1:n.*1083_*1084del
ENST00000679992.1:c.*1083_*1084del ENSP00000506585.1:n.*1083_*1084del
ENST00000680048.1:c.*3205_*3206del ENSP00000505296.1:n.*3205_*3206del
ENST00000680125.1:c.*1083_*1084del ENSP00000506424.1:n.*1083_*1084del
ENST00000680232.1:c.*1083_*1084del ENSP00000506207.1:n.*1083_*1084del
ENST00000680318.1:c.*1083_*1084del ENSP00000505057.1:n.*1083_*1084del
ENST00000680568.1:n.1940_1941del
ENST00000680655.1:c.*2424_*2425del ENSP00000506436.1:n.*2424_*2425del
ENST00000680876.1:n.5893_5894del
ENST00000680878.1:n.5758_5759del
ENST00000681633.1:n.5520_5521del
ENST00000681926.1:c.*1083_*1084del ENSP00000505850.1:n.*1083_*1084del
ENST00000265113.8:c.*1083_*1084del ENSP00000265113.4:n.*1083_*1084del
ENST00000381918.3:c.*1083_*1084del ENSP00000371343.3:n.*1083_*1084del
ENST00000612708.4:c.*1083_*1084del ENSP00000483657.1:n.*1083_*1084del
ENST00000613445.4:c.*1083_*1084del ENSP00000477672.1:n.*1083_*1084del
NM_001166695.2:c.*1083_*1084del NP_001160167.1:n.*1083_*1084del
NM_001289939.1:c.*1083_*1084del NP_001276868.1:n.*1083_*1084del
NM_001289940.1:c.*1083_*1084del NP_001276869.1:n.*1083_*1084del
NM_004172.4:c.*1083_*1084del NP_004163.3:n.*1083_*1084del
XM_005248342.1:c.*1083_*1084del XP_005248399.1:n.*1083_*1084del
XM_011514084.1:c.*1083_*1084del XP_011512386.1:n.*1083_*1084del
XM_005248342.3:c.*1083_*1084del XP_005248399.1:n.*1083_*1084del
XM_011514084.2:c.*1083_*1084del XP_011512386.1:n.*1083_*1084del
XM_024446181.1:c.*1083_*1084del XP_024301949.1:n.*1083_*1084del
XM_024446182.1:c.*1083_*1084del XP_024301950.1:n.*1083_*1084del
NM_004172.5:c.*1083_*1084del MANE Select NP_004163.3:n.*1083_*1084del
NM_001166695.3:c.*1083_*1084del NP_001160167.1:n.*1083_*1084del
NM_001289939.2:c.*1083_*1084del NP_001276868.1:n.*1083_*1084del
NM_001289940.2:c.*1083_*1084del NP_001276869.1:n.*1083_*1084del