Canonical Allele Identifier: CA265600743
Community Standard Title: NM_004239.4(TRIP11):c.5056+287_5056+289del
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91995066_91995068del , CM000676.2:g.91995066_91995068del GRCh38
NC_000014.8:g.92461410_92461412del , CM000676.1:g.92461410_92461412del GRCh37
NC_000014.7:g.91531163_91531165del NCBI36
NG_016970.1:g.49995_49997del

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.5056+287_5056+289del MANE Select NP_004230.2:n.5056+287_5056+289del
ENST00000267622.8:c.5056+287_5056+289del MANE Select ENSP00000267622.4:n.5056+287_5056+289del
NM_001321851.1:c.5053+287_5053+289del NP_001308780.1:n.5053+287_5053+289del
NM_004239.3:c.5056+287_5056+289del NP_004230.2:n.5056+287_5056+289del
ENST00000554357.5:c.4202+287_4202+289del
ENST00000557017.1:c.304+287_304+289del ENSP00000451607.1:n.304+287_304+289del
XM_005268214.2:c.3730+287_3730+289del XP_005268271.1:n.3730+287_3730+289del
XM_005268215.2:c.2026+287_2026+289del XP_005268272.1:n.2026+287_2026+289del
XM_006720321.2:c.5053+287_5053+289del XP_006720384.1:n.5053+287_5053+289del
XM_011537361.1:c.4893-1153_4893-1151del XP_011535663.1:n.4893-1153_4893-1151del
XM_017021787.2:c.4351+287_4351+289del XP_016877276.1:n.4351+287_4351+289del
XM_017021788.2:c.3730+287_3730+289del XP_016877277.1:n.3730+287_3730+289del
XR_001750598.2:n.5342-1153_5342-1151del
XR_943560.1:n.5511+287_5511+289del
XR_943560.2:n.5505+287_5505+289del