Canonical Allele Identifier: CA2609653941
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249401del , CM000672.2:g.73249401del GRCh38
NC_000010.10:g.75009159del , CM000672.1:g.75009159del GRCh37
NC_000010.9:g.74679165del NCBI36
NG_008096.1:g.8295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1453del (MRPS16) MANE Select ENSP00000362036.3:n.*1453del
ENST00000372940.3:c.275-81del (MRPS16) ENSP00000362031.3:n.275-81del
ENST00000372945.7:c.*1453del (MRPS16) ENSP00000362036.3:n.*1453del
ENST00000479005.1:n.2024del (MRPS16)
NM_016065.3:c.*1453del (MRPS16) NP_057149.1:n.*1453del
NR_038373.1:n.175+951del (DNAJC9-AS1)
NM_016065.4:c.*1453del (MRPS16) MANE Select NP_057149.1:n.*1453del