Canonical Allele Identifier: CA1919528963
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249488_73249490delinsTAC , CM000672.2:g.73249488_73249490delinsTAC GRCh38
NC_000010.10:g.75009246_75009248delinsTAC , CM000672.1:g.75009246_75009248delinsTAC GRCh37
NC_000010.9:g.74679252_74679254delinsTAC NCBI36
NG_008096.1:g.8204_8206delinsGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1362_*1364delinsGTA (MRPS16) MANE Select ENSP00000362036.3:n.*1362_*1364delinsGTA
ENST00000372940.3:c.275-172_275-170delinsGTA (MRPS16) ENSP00000362031.3:n.275-172_275-170delinsGTA
ENST00000372945.7:c.*1362_*1364delinsGTA (MRPS16) ENSP00000362036.3:n.*1362_*1364delinsGTA
ENST00000479005.1:n.1933_1935delinsGTA (MRPS16)
NM_016065.3:c.*1362_*1364delinsGTA (MRPS16) NP_057149.1:n.*1362_*1364delinsGTA
NR_038373.1:n.175+1038_175+1040delinsTAC (DNAJC9-AS1)
NM_016065.4:c.*1362_*1364delinsGTA (MRPS16) MANE Select NP_057149.1:n.*1362_*1364delinsGTA