Canonical Allele Identifier: CA358680
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3234300_3234303del , CM000682.2:g.3234300_3234303del GRCh38
NC_000020.10:g.3214946_3214949del , CM000682.1:g.3214946_3214949del GRCh37
NC_000020.9:g.3162946_3162949del NCBI36
NG_017072.1:g.9941_9944del

Transcript Alleles

HGVS Amino-acid Change
ENST00000642402.1:c.305_308del MANE Select ENSP00000493503.1:p.Lys102ThrfsTer12
ENST00000644011.1:c.292-56_292-53del ENSP00000496214.1:n.292-56_292-53del
ENST00000644692.1:c.248_251del ENSP00000493824.1:p.Lys83ThrfsTer12
ENST00000645524.1:c.*217_*220del ENSP00000495635.1:n.*217_*220del
ENST00000647296.1:c.305_308del ENSP00000495050.1:p.Lys102ThrfsTer12
ENST00000380056.7:c.353_356del ENSP00000369396.3:p.Lys118ThrfsTer12
ENST00000380059.7:c.434_437del ENSP00000369399.3:p.Lys145ThrfsTer12
ENST00000437836.2:c.248_251del ENSP00000404271.2:p.Lys83ThrfsTer12
ENST00000474451.5:c.248_251del ENSP00000476859.1:p.Lys83ThrfsTer12
ENST00000539553.6:c.305_308del ENSP00000441370.1:p.Lys102ThrfsTer12
NM_001174089.1:c.305_308del NP_001167560.1:p.Lys102ThrfsTer12
NM_001174090.1:c.434_437del NP_001167561.1:p.Lys145ThrfsTer12
NM_032034.3:c.353_356del NP_114423.1:p.Lys118ThrfsTer12
XM_005260856.3:c.788_791del XP_005260913.1:p.Lys263ThrfsTer12
XM_005260857.1:c.248_251del XP_005260914.1:p.Lys83ThrfsTer12
XM_011529383.1:c.272_275del XP_011527685.1:p.Lys91ThrfsTer12
XM_011529384.1:c.248_251del XP_011527686.1:p.Lys83ThrfsTer12
XM_011529385.1:c.248_251del XP_011527687.1:p.Lys83ThrfsTer12
XM_011529386.1:c.788_791del XP_011527688.1:p.Lys263ThrfsTer12
XR_937167.1:n.473_476del
NM_001363745.1:c.305_308del NP_001350674.1:p.Lys102ThrfsTer12
NR_135000.1:n.473_476del
XM_005260856.5:c.788_791del XP_005260913.1:p.Lys263ThrfsTer12
XM_011529383.3:c.272_275del XP_011527685.1:p.Lys91ThrfsTer12
XM_017028093.1:c.788_791del XP_016883582.1:p.Lys263ThrfsTer12
XM_017028094.1:c.248_251del XP_016883583.1:p.Lys83ThrfsTer12
XM_017028096.1:c.248_251del XP_016883585.1:p.Lys83ThrfsTer12
XM_017028097.1:c.788_791del XP_016883586.1:p.Lys263ThrfsTer12
XR_001754419.1:n.898_901del
XR_001754420.2:n.898_901del
NM_001174089.2:c.305_308del MANE Select NP_001167560.1:p.Lys102ThrfsTer12
NM_001363745.2:c.305_308del NP_001350674.1:p.Lys102ThrfsTer12
NM_001174090.2:c.434_437del NP_001167561.1:p.Lys145ThrfsTer12
NM_032034.4:c.353_356del NP_114423.1:p.Lys118ThrfsTer12
NM_001400277.1:c.248_251del NP_001387206.1:p.Lys83ThrfsTer12
NM_001400278.1:c.248_251del NP_001387207.1:p.Lys83ThrfsTer12
NM_001400279.1:c.248_251del NP_001387208.1:p.Lys83ThrfsTer12
NM_001400280.1:c.434_437del NP_001387209.1:p.Lys145ThrfsTer12
NR_174470.1:n.863_866del
NR_174471.1:n.863_866del