Canonical Allele Identifier: CA2722019261
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs868436163

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249444_73249446dup , CM000672.2:g.73249444_73249446dup GRCh38
NC_000010.10:g.75009202_75009204dup , CM000672.1:g.75009202_75009204dup GRCh37
NC_000010.9:g.74679208_74679210dup NCBI36
NG_008096.1:g.8251_8253dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1409_*1411dup (MRPS16) MANE Select ENSP00000362036.3:n.*1409_*1411dup
ENST00000372940.3:c.275-125_275-123dup (MRPS16) ENSP00000362031.3:n.275-125_275-123dup
ENST00000372945.7:c.*1409_*1411dup (MRPS16) ENSP00000362036.3:n.*1409_*1411dup
ENST00000479005.1:n.1980_1982dup (MRPS16)
NM_016065.3:c.*1409_*1411dup (MRPS16) NP_057149.1:n.*1409_*1411dup
NR_038373.1:n.175+994_175+996dup (DNAJC9-AS1)
NM_016065.4:c.*1409_*1411dup (MRPS16) MANE Select NP_057149.1:n.*1409_*1411dup