Canonical Allele Identifier: CA354211
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3230597_3230600delinsT , CM000682.2:g.3230597_3230600delinsT GRCh38
NC_000020.10:g.3211243_3211246delinsT , CM000682.1:g.3211243_3211246delinsT GRCh37
NC_000020.9:g.3159243_3159246delinsT NCBI36
NG_017072.1:g.13642_13645delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000642402.1:c.1330_1333delinsA MANE Select ENSP00000493503.1:p.Tyr444_Ala445delinsThr
ENST00000644011.1:c.1261_1264delinsA ENSP00000496214.1:p.Tyr421_Ala422delinsThr
ENST00000644692.1:c.1201_1204delinsA ENSP00000493824.1:p.Tyr401_Ala402delinsThr
ENST00000647296.1:c.1216_1219delinsA ENSP00000495050.1:p.Tyr406_Ala407delinsThr
ENST00000380056.7:c.1378_1381delinsA ENSP00000369396.3:p.Tyr460_Ala461delinsThr
ENST00000380059.7:c.1459_1462delinsA ENSP00000369399.3:p.Tyr487_Ala488delinsThr
ENST00000474451.5:c.1273_1276delinsA ENSP00000476859.1:p.Tyr425_Ala426delinsThr
ENST00000539553.6:c.1330_1333delinsA ENSP00000441370.1:p.Tyr444_Ala445delinsThr
NM_001174089.1:c.1330_1333delinsA NP_001167560.1:p.Tyr444_Ala445delinsThr
NM_001174090.1:c.1459_1462delinsA NP_001167561.1:p.Tyr487_Ala488delinsThr
NM_032034.3:c.1378_1381delinsA NP_114423.1:p.Tyr460_Ala461delinsThr
XM_005260856.3:c.1699_1702delinsA XP_005260913.1:p.Tyr567_Ala568delinsThr
XM_005260857.1:c.1273_1276delinsA XP_005260914.1:p.Tyr425_Ala426delinsThr
XM_011529383.1:c.1297_1300delinsA XP_011527685.1:p.Tyr433_Ala434delinsThr
XM_011529384.1:c.1273_1276delinsA XP_011527686.1:p.Tyr425_Ala426delinsThr
XM_011529385.1:c.1273_1276delinsA XP_011527687.1:p.Tyr425_Ala426delinsThr
XM_011529386.1:c.1813_1816delinsA XP_011527688.1:p.Tyr605_Ala606delinsThr
XR_937167.1:n.1498_1501delinsA
NM_001363745.1:c.1216_1219delinsA NP_001350674.1:p.Tyr406_Ala407delinsThr
NR_135000.1:n.1498_1501delinsA
XM_005260856.5:c.1699_1702delinsA XP_005260913.1:p.Tyr567_Ala568delinsThr
XM_011529383.3:c.1297_1300delinsA XP_011527685.1:p.Tyr433_Ala434delinsThr
XM_017028093.1:c.1813_1816delinsA XP_016883582.1:p.Tyr605_Ala606delinsThr
XM_017028094.1:c.1273_1276delinsA XP_016883583.1:p.Tyr425_Ala426delinsThr
XM_017028096.1:c.1273_1276delinsA XP_016883585.1:p.Tyr425_Ala426delinsThr
XM_017028097.1:c.*45_*48delinsA XP_016883586.1:n.*45_*48delinsA
XR_001754419.1:n.1923_1926delinsA
XR_001754420.2:n.1923_1926delinsA
NM_001174089.2:c.1330_1333delinsA MANE Select NP_001167560.1:p.Tyr444_Ala445delinsThr
NM_001363745.2:c.1216_1219delinsA NP_001350674.1:p.Tyr406_Ala407delinsThr
NM_001174090.2:c.1459_1462delinsA NP_001167561.1:p.Tyr487_Ala488delinsThr
NM_032034.4:c.1378_1381delinsA NP_114423.1:p.Tyr460_Ala461delinsThr
NM_001400277.1:c.1273_1276delinsA NP_001387206.1:p.Tyr425_Ala426delinsThr
NM_001400278.1:c.1273_1276delinsA NP_001387207.1:p.Tyr425_Ala426delinsThr
NM_001400279.1:c.1273_1276delinsA NP_001387208.1:p.Tyr425_Ala426delinsThr
NM_001400280.1:c.1345_1348delinsA NP_001387209.1:p.Tyr449_Ala450delinsThr
NR_174470.1:n.1888_1891delinsA
NR_174471.1:n.1888_1891delinsA