Canonical Allele Identifier: CA10636244
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 300694
ClinVar RCV Id: RCV000372896
dbSNP Id: rs767465725
gnomAD v2: 10-75009316-CAAG-C
gnomAD v3: 10-73249558-CAAG-C
gnomAD v4: 10-73249558-CAAG-C
MyVariant Identifiers: chr10:g.75009317_75009319del (hg19) chr10:g.73249559_73249561del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249561_73249563del , CM000672.2:g.73249561_73249563del GRCh38
NC_000010.10:g.75009319_75009321del , CM000672.1:g.75009319_75009321del GRCh37
NC_000010.9:g.74679325_74679327del NCBI36
NG_008096.1:g.8133_8135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1291_*1293del (MRPS16) MANE Select ENSP00000362036.3:n.*1291_*1293del
ENST00000372940.3:c.275-243_275-241del (MRPS16) ENSP00000362031.3:n.275-243_275-241del
ENST00000372945.7:c.*1291_*1293del (MRPS16) ENSP00000362036.3:n.*1291_*1293del
ENST00000479005.1:n.1862_1864del (MRPS16)
NM_016065.3:c.*1291_*1293del (MRPS16) NP_057149.1:n.*1291_*1293del
NR_038373.1:n.175+1111_175+1113del (DNAJC9-AS1)
NM_016065.4:c.*1291_*1293del (MRPS16) MANE Select NP_057149.1:n.*1291_*1293del
Search 100 bp 5'
Search 100 bp 3'