Canonical Allele Identifier: CA639394634
Gene: TRIOBP HGNC NCBI

Linked Data

dbSNP Id: rs1569040569
gnomAD v2: 22-38119918-CAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAG-C
gnomAD v3: 22-37723911-CAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAG-C
gnomAD v4: 22-37723911-CAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAG-C
MyVariant Identifiers: chr22:g.38119919_38119996del (hg19) chr22:g.37723912_37723989del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37723949_37724026del , CM000684.2:g.37723949_37724026del GRCh38
NC_000022.10:g.38119956_38120033del , CM000684.1:g.38119956_38120033del GRCh37
NC_000022.9:g.36449902_36449979del NCBI36
NG_012857.1:g.31962_32039del

Transcript Alleles

HGVS Amino-acid change
ENST00000644935.1:c.1393_1470del MANE Select ENSP00000496394.1:p.Arg465_Ser490del
ENST00000344404.10:c.*876_*953del ENSP00000340312.6:n.*876_*953del
ENST00000406386.7:c.1393_1470del ENSP00000384312.3:p.Arg465_Ser490del
ENST00000455236.4:c.2350_2427del ENSP00000477208.1:n.2350_2427del
ENST00000492485.5:n.1327_1404del
NM_001039141.2:c.1393_1470del NP_001034230.1:p.Arg465_Ser490del
NM_001039141.3:c.1393_1470del MANE Select NP_001034230.1:p.Arg465_Ser490del
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