Canonical Allele Identifier: CA2573335138
Community Standard Title: NM_001160372.4(TRAPPC9):c.2123del (p.His708LeufsTer27)
Gene: TRAPPC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.140275813del , CM000670.2:g.140275813del GRCh38
NC_000008.10:g.141285912del , CM000670.1:g.141285912del GRCh37
NC_000008.9:g.141355094del NCBI36
NG_016478.2:g.187767del
NG_016478.3:g.187767del

Transcript Alleles

HGVS Amino-acid Change
NM_001160372.4:c.2123del MANE Select NP_001153844.1:p.His708LeufsTer27
ENST00000438773.4:c.2123del MANE Select ENSP00000405060.3:p.His708LeufsTer27
NM_001160372.2:c.2123del NP_001153844.1:p.His708LeufsTer27
NM_001160372.3:c.2123del NP_001153844.1:p.His708LeufsTer27
NM_001321646.1:c.2096del NP_001308575.1:p.His699LeufsTer27
NM_001321646.2:c.2096del NP_001308575.1:p.His699LeufsTer27
NM_001374682.1:c.2144del NP_001361611.1:p.His715LeufsTer27
NM_001374683.1:c.2123del NP_001361612.1:p.His708LeufsTer27
NM_001374684.1:c.1979del NP_001361613.1:p.His660LeufsTer27
NM_031466.6:c.2417del NP_113654.4:p.His806LeufsTer27
NM_031466.7:c.2417del NP_113654.4:p.His806LeufsTer27
NM_031466.8:c.2123del NP_113654.5:p.His708LeufsTer27
NR_164662.1:n.2212del
ENST00000389328.8:c.2417del ENSP00000373979.4:p.His806LeufsTer27
ENST00000438773.2:c.2123del ENSP00000405060.2:p.His708LeufsTer27
ENST00000520857.5:c.1653del
ENST00000521667.5:n.528del
ENST00000648948.2:c.2123del ENSP00000498020.1:p.His708LeufsTer27
XM_005251077.3:c.2123del XP_005251134.1:p.His708LeufsTer27
XM_011517326.1:c.2390del XP_011515628.1:p.His797LeufsTer27
XM_011517326.2:c.2390del XP_011515628.1:p.His797LeufsTer27
XM_011517327.1:c.2417del XP_011515629.1:p.His806LeufsTer27
XM_011517328.1:c.2417del XP_011515630.1:p.His806LeufsTer27
XM_011517328.2:c.2417del XP_011515630.1:p.His806LeufsTer27
XM_011517329.1:c.1511del XP_011515631.1:p.His504LeufsTer27
XM_011517330.1:c.572del XP_011515632.1:p.His191LeufsTer27
XM_011517330.2:c.572del XP_011515632.1:p.His191LeufsTer27
XM_017013893.1:c.2417del XP_016869382.1:p.His806LeufsTer27
XM_017013894.2:c.743del XP_016869383.1:p.His248LeufsTer27
XR_001746116.1:n.2749-5822del
XR_001746117.1:n.2749-5822del
XR_928355.1:n.2432del
XR_928355.2:n.2432del
XR_928701.1:n.1231-5822del
XR_928701.2:n.1170-5822del
XR_928702.1:n.1231-5822del