Canonical Allele Identifier: CA1919528941
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249440_73249443delinsCAAG , CM000672.2:g.73249440_73249443delinsCAAG GRCh38
NC_000010.10:g.75009198_75009201delinsCAAG , CM000672.1:g.75009198_75009201delinsCAAG GRCh37
NC_000010.9:g.74679204_74679207delinsCAAG NCBI36
NG_008096.1:g.8251_8254delinsCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1409_*1412delinsCTTG (MRPS16) MANE Select ENSP00000362036.3:n.*1409_*1412delinsCTTG
ENST00000372940.3:c.275-125_275-122delinsCTTG (MRPS16) ENSP00000362031.3:n.275-125_275-122delinsCTTG
ENST00000372945.7:c.*1409_*1412delinsCTTG (MRPS16) ENSP00000362036.3:n.*1409_*1412delinsCTTG
ENST00000479005.1:n.1980_1983delinsCTTG (MRPS16)
NM_016065.3:c.*1409_*1412delinsCTTG (MRPS16) NP_057149.1:n.*1409_*1412delinsCTTG
NR_038373.1:n.175+990_175+993delinsCAAG (DNAJC9-AS1)
NM_016065.4:c.*1409_*1412delinsCTTG (MRPS16) MANE Select NP_057149.1:n.*1409_*1412delinsCTTG