Canonical Allele Identifier: CA8993170
Community Standard Title: NM_019022.5(TMX3):c.637+16_637+17del
Gene: TMX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.68691279_68691280del , CM000680.2:g.68691279_68691280del GRCh38
NC_000018.9:g.66358516_66358517del , CM000680.1:g.66358516_66358517del GRCh37
NC_000018.8:g.64509496_64509497del NCBI36
NG_053149.1:g.29020_29021del

Transcript Alleles

HGVS Amino-acid Change
NM_019022.5:c.637+16_637+17del MANE Select NP_061895.3:n.637+16_637+17del
ENST00000299608.7:c.637+16_637+17del MANE Select ENSP00000299608.2:n.637+16_637+17del
NM_001350513.1:c.572_573del NP_001337442.1:p.Phe191Ter
NM_001350513.2:c.572_573del NP_001337442.1:p.Phe191Ter
NM_001350514.1:c.556+16_556+17del NP_001337443.1:n.556+16_556+17del
NM_001350514.2:c.556+16_556+17del NP_001337443.1:n.556+16_556+17del
NM_001350515.1:c.214+16_214+17del NP_001337444.1:n.214+16_214+17del
NM_001350515.2:c.214+16_214+17del NP_001337444.1:n.214+16_214+17del
NM_001350516.1:c.214+16_214+17del NP_001337445.1:n.214+16_214+17del
NM_001350516.2:c.214+16_214+17del NP_001337445.1:n.214+16_214+17del
NM_001350517.1:c.214+16_214+17del NP_001337446.1:n.214+16_214+17del
NM_001350517.2:c.214+16_214+17del NP_001337446.1:n.214+16_214+17del
NM_019022.3:c.637+16_637+17del NP_061895.3:n.637+16_637+17del
NM_019022.4:c.637+16_637+17del NP_061895.3:n.637+16_637+17del
ENST00000299608.6:c.637+16_637+17del ENSP00000299608.2:n.637+16_637+17del
ENST00000443099.6:c.572_573del ENSP00000402605.2:p.Phe191Ter
ENST00000564631.5:c.*321+16_*321+17del ENSP00000456587.1:n.*321+16_*321+17del
ENST00000566887.1:n.59+16_59+17del
ENST00000569053.5:c.*321+16_*321+17del ENSP00000458132.1:n.*321+16_*321+17del
XM_005266714.1:c.214+16_214+17del XP_005266771.1:n.214+16_214+17del
XM_011526032.1:c.763+16_763+17del XP_011524334.1:n.763+16_763+17del
XM_011526033.1:c.214+16_214+17del XP_011524335.1:n.214+16_214+17del
XM_011526034.1:c.637+16_637+17del XP_011524336.1:n.637+16_637+17del
XM_011526034.3:c.637+16_637+17del XP_011524336.1:n.637+16_637+17del
XM_011526035.1:c.637+16_637+17del XP_011524337.1:n.637+16_637+17del
XM_011526035.3:c.637+16_637+17del XP_011524337.1:n.637+16_637+17del
XR_935227.1:n.764+16_764+17del
XR_935227.2:n.768+16_768+17del