Canonical Allele Identifier: CA2663111981
Gene: SLC11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218384281del , CM000664.2:g.218384281del GRCh38
NC_000002.11:g.219249004del , CM000664.1:g.219249004del GRCh37
NC_000002.10:g.218957248del NCBI36
NG_012128.1:g.7253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233202.11:c.189del MANE Select ENSP00000233202.6:p.Pro64LeufsTer5
ENST00000233202.10:c.189del ENSP00000233202.6:p.Pro64LeufsTer5
ENST00000354352.9:c.189del ENSP00000346320.5:p.Pro64LeufsTer5
ENST00000465984.5:n.332-866del
ENST00000468221.5:n.1669del
ENST00000469449.1:n.595del
ENST00000469799.5:n.98-866del
ENST00000471875.5:n.136del
ENST00000473367.5:c.151-38del ENSP00000484905.1:n.151-38del
ENST00000475225.5:n.186-38del
ENST00000481524.5:c.8-866del ENSP00000483970.1:n.8-866del
ENST00000483487.2:n.115del
ENST00000492413.5:n.271del
ENST00000494322.5:n.285del
ENST00000539932.5:c.46del ENSP00000443435.2:p.Ala16ProfsTer?
NM_000578.3:c.189del NP_000569.3:p.Pro64LeufsTer5
XM_005246793.2:c.-13del XP_005246850.1:n.-13del
XM_005246794.2:c.-240del XP_005246851.1:n.-240del
XM_006712709.2:c.-240del XP_006712772.1:n.-240del
XM_006712710.2:c.-155-866del XP_006712773.1:n.-155-866del
XM_006712711.2:c.-174-866del XP_006712774.1:n.-174-866del
XM_011511684.1:c.-248del XP_011509986.1:n.-248del
XM_011511685.1:c.-248del XP_011509987.1:n.-248del
XR_427107.1:n.352del
XR_427108.2:n.649del
XM_005246793.4:c.-13del XP_005246850.1:n.-13del
XM_005246794.4:c.-240del XP_005246851.1:n.-240del
XM_006712709.4:c.-240del XP_006712772.1:n.-240del
XM_006712710.4:c.-155-866del XP_006712773.1:n.-155-866del
XM_006712711.4:c.-174-866del XP_006712774.1:n.-174-866del
XM_011511684.3:c.-248del XP_011509986.1:n.-248del
XM_011511685.3:c.-248del XP_011509987.1:n.-248del
XM_017004765.2:c.151-866del XP_016860254.1:n.151-866del
XM_017004766.2:c.-13del XP_016860255.1:n.-13del
XM_017004767.2:c.189del XP_016860256.1:p.Pro64LeufsTer5
XR_427107.3:n.338del
XR_427108.4:n.649del
NM_000578.4:c.189del MANE Select NP_000569.3:p.Pro64LeufsTer5