Canonical Allele Identifier: CA1919528998
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249558_73249561delinsCAAG , CM000672.2:g.73249558_73249561delinsCAAG GRCh38
NC_000010.10:g.75009316_75009319delinsCAAG , CM000672.1:g.75009316_75009319delinsCAAG GRCh37
NC_000010.9:g.74679322_74679325delinsCAAG NCBI36
NG_008096.1:g.8133_8136delinsCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1291_*1294delinsCTTG (MRPS16) MANE Select ENSP00000362036.3:n.*1291_*1294delinsCTTG
ENST00000372940.3:c.275-243_275-240delinsCTTG (MRPS16) ENSP00000362031.3:n.275-243_275-240delinsCTTG
ENST00000372945.7:c.*1291_*1294delinsCTTG (MRPS16) ENSP00000362036.3:n.*1291_*1294delinsCTTG
ENST00000479005.1:n.1862_1865delinsCTTG (MRPS16)
NM_016065.3:c.*1291_*1294delinsCTTG (MRPS16) NP_057149.1:n.*1291_*1294delinsCTTG
NR_038373.1:n.175+1108_175+1111delinsCAAG (DNAJC9-AS1)
NM_016065.4:c.*1291_*1294delinsCTTG (MRPS16) MANE Select NP_057149.1:n.*1291_*1294delinsCTTG