Canonical Allele Identifier: CA487832034
Community Standard Title: NM_004239.4(TRIP11):c.1622del (p.Lys541ArgfsTer17)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92006360del , CM000676.2:g.92006360del GRCh38
NC_000014.8:g.92472704del , CM000676.1:g.92472704del GRCh37
NC_000014.7:g.91542457del NCBI36
NG_016970.1:g.38706del

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.1622del MANE Select NP_004230.2:p.Lys541ArgfsTer17
ENST00000267622.8:c.1622del MANE Select ENSP00000267622.4:p.Lys541ArgfsTer17
NM_001321851.1:c.1619del NP_001308780.1:p.Lys540ArgfsTer17
NM_004239.3:c.1622del NP_004230.2:p.Lys541ArgfsTer17
ENST00000554357.5:c.768del
XM_005268214.2:c.296del XP_005268271.1:p.Lys99ArgfsTer17
XM_005268215.2:c.1527+1286del XP_005268272.1:n.1527+1286del
XM_006720321.2:c.1619del XP_006720384.1:p.Lys540ArgfsTer17
XM_011537361.1:c.1622del XP_011535663.1:p.Lys541ArgfsTer17
XM_017021787.2:c.917del XP_016877276.1:p.Lys306ArgfsTer17
XM_017021788.2:c.296del XP_016877277.1:p.Lys99ArgfsTer17
XR_001750598.2:n.2071del
XR_943560.1:n.2077del
XR_943560.2:n.2071del