Canonical Allele Identifier: CA203451

Gene: TRIOBP

Linked Data

• ClinVar Variation Id: 198447
• ClinVar RCV Id: RCV000179804 ; RCV000990437 ; RCV001610498
• dbSNP Id: rs55745992
• ExAC: 22:38119754 TCAA / T
• gnomAD v2: 22-38119754-TCAA-T
• gnomAD v3: 22-37723747-TCAA-T
• gnomAD v4: 22-37723747-TCAA-T
• COSMIC: COSM5713391
• MyVariant Identifiers: chr22:g.38119756_38119758del (hg19) ; chr22:g.38119755_38119757del (hg19) ; chr22:g.37723749_37723751del (hg38) ; chr22:g.37723748_37723750del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37723749_37723751del , CM000684.2:g.37723749_37723751del	GRCh38
NC_000022.10:g.38119756_38119758del , CM000684.1:g.38119756_38119758del	GRCh37
NC_000022.9:g.36449702_36449704del	NCBI36
NG_012857.1:g.31762_31764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644935.1:c.1193_1195del MANE Select	ENSP00000496394.1:p.Gln398del
ENST00000344404.10:c.*676_*678del	ENSP00000340312.6:n.*676_*678del
ENST00000406386.7:c.1193_1195del	ENSP00000384312.3:p.Gln398del
ENST00000455236.4:c.2150_2152del	ENSP00000477208.1:n.2150_2152del
ENST00000492485.5:n.1127_1129del
NM_001039141.2:c.1193_1195del	NP_001034230.1:p.Gln398del
NM_001039141.3:c.1193_1195del MANE Select	NP_001034230.1:p.Gln398del