Canonical Allele Identifier: CA919155625
Gene: TMPO HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.98534013_98534014del , CM000674.2:g.98534013_98534014del GRCh38
NC_000012.11:g.98927791_98927792del , CM000674.1:g.98927791_98927792del GRCh37
NC_000012.10:g.97451922_97451923del NCBI36
NG_021393.1:g.23441_23442del , LRG_443:g.23441_23442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000556029.6:c.565+2175_565+2176del MANE Select ENSP00000450627.1:n.565+2175_565+2176del
ENST00000261210.9:c.565+2175_565+2176del ENSP00000261210.5:n.565+2175_565+2176del
ENST00000266732.8:c.1756_1757del ENSP00000266732.4:p.Thr586CysfsTer5
ENST00000343315.9:c.565+2175_565+2176del ENSP00000340251.5:n.565+2175_565+2176del
ENST00000393053.6:c.565+2175_565+2176del ENSP00000376773.2:n.565+2175_565+2176del
ENST00000552831.1:n.643+2175_643+2176del
ENST00000556029.5:c.565+2175_565+2176del ENSP00000450627.1:n.565+2175_565+2176del
ENST00000556678.1:c.286+2175_286+2176del ENSP00000451552.1:n.286+2175_286+2176del
NM_001032283.2:c.565+2175_565+2176del , LRG_443t1:c.565+2175_565+2176del NP_001027454.1:n.565+2175_565+2176del
NM_001032284.2:c.565+2175_565+2176del NP_001027455.1:n.565+2175_565+2176del
NM_001307975.1:c.565+2175_565+2176del NP_001294904.1:n.565+2175_565+2176del
NM_003276.2:c.1756_1757del , LRG_443t2:c.1756_1757del NP_003267.1:p.Thr586CysfsTer5
XM_005269132.2:c.565+2175_565+2176del XP_005269189.1:n.565+2175_565+2176del
XM_005269132.4:c.565+2175_565+2176del XP_005269189.1:n.565+2175_565+2176del
XM_017019914.2:c.850_851del XP_016875403.1:p.Thr284CysfsTer5
NM_001032283.3:c.565+2175_565+2176del MANE Select NP_001027454.1:n.565+2175_565+2176del
NM_001032284.3:c.565+2175_565+2176del NP_001027455.1:n.565+2175_565+2176del
NM_001307975.2:c.565+2175_565+2176del NP_001294904.1:n.565+2175_565+2176del