Canonical Allele Identifier: CA6732249
Community Standard Title: NM_001032283.3(TMPO):c.565+995_565+998del
Gene: TMPO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.98532833_98532836del , CM000674.2:g.98532833_98532836del GRCh38
NC_000012.11:g.98926611_98926614del , CM000674.1:g.98926611_98926614del GRCh37
NC_000012.10:g.97450742_97450745del NCBI36
NG_021393.1:g.22261_22264del , LRG_443:g.22261_22264del

Transcript Alleles

HGVS Amino-acid Change
NM_001032283.3:c.565+995_565+998del MANE Select NP_001027454.1:n.565+995_565+998del
ENST00000556029.6:c.565+995_565+998del MANE Select ENSP00000450627.1:n.565+995_565+998del
NM_001032283.2:c.565+995_565+998del , LRG_443t1:c.565+995_565+998del NP_001027454.1:n.565+995_565+998del
NM_001032284.2:c.565+995_565+998del NP_001027455.1:n.565+995_565+998del
NM_001032284.3:c.565+995_565+998del NP_001027455.1:n.565+995_565+998del
NM_001307975.1:c.565+995_565+998del NP_001294904.1:n.565+995_565+998del
NM_001307975.2:c.565+995_565+998del NP_001294904.1:n.565+995_565+998del
NM_003276.2:c.576_579del , LRG_443t2:c.576_579del NP_003267.1:p.Lys192AsnfsTer5
ENST00000261210.9:c.565+995_565+998del ENSP00000261210.5:n.565+995_565+998del
ENST00000266732.8:c.576_579del ENSP00000266732.4:p.Lys192AsnfsTer5
ENST00000343315.9:c.565+995_565+998del ENSP00000340251.5:n.565+995_565+998del
ENST00000393053.6:c.565+995_565+998del ENSP00000376773.2:n.565+995_565+998del
ENST00000549938.5:n.563_566del
ENST00000552831.1:n.643+995_643+998del
ENST00000556029.5:c.565+995_565+998del ENSP00000450627.1:n.565+995_565+998del
ENST00000556678.1:c.286+995_286+998del ENSP00000451552.1:n.286+995_286+998del
XM_005269132.2:c.565+995_565+998del XP_005269189.1:n.565+995_565+998del
XM_005269132.4:c.565+995_565+998del XP_005269189.1:n.565+995_565+998del
XM_017019914.2:c.-331_-328del XP_016875403.1:n.-331_-328del