Canonical Allele Identifier: CA3179791
Gene: TRIP13 HGNC NCBI
gnomAD v2:
5:895111 CA / C
gnomAD v3:
5:894996 CA / C
gnomAD v4:
chr5-894996-CA-C
Joint Max Group AF 0.76700519 (AFR)
Genomes Max Group AF 0.75155236 (AFR)
Exomes Max Group AF 0.78250195 (AFR)
ClinVar Allele:
1215541
ClinVar RCV:
RCV001611134
RCV001838693
RCV001838694
ClinVar Variation:
1225568
dbSNP:
66843001
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.895000del , CM000667.2:g.895000del GRCh38
NC_000005.9:g.895115del , CM000667.1:g.895115del GRCh37
NC_000005.8:g.948115del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000166345.8:c.258+48del MANE Select ENSP00000166345.3:n.258+48del
ENST00000166345.7:c.258+48del ENSP00000166345.3:n.258+48del
ENST00000508456.1:n.232+48del
ENST00000512024.5:n.373+48del
ENST00000513435.1:c.245+48del
NM_001166260.1:c.258+48del NP_001159732.1:n.258+48del
NM_004237.3:c.258+48del NP_004228.1:n.258+48del
XM_011514163.1:c.258+48del XP_011512465.1:n.258+48del
XM_011514163.2:c.258+48del XP_011512465.1:n.258+48del
NM_004237.4:c.258+48del MANE Select NP_004228.1:n.258+48del
NM_001166260.2:c.258+48del NP_001159732.1:n.258+48del
Search 100 bp 5'
Search 100 bp 3'