Canonical Allele Identifier: CA2609653953
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

gnomAD v4: 10-73249410-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249410_73249411insG , CM000672.2:g.73249410_73249411insG GRCh38
NC_000010.10:g.75009168_75009169insG , CM000672.1:g.75009168_75009169insG GRCh37
NC_000010.9:g.74679174_74679175insG NCBI36
NG_008096.1:g.8283_8284insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1441_*1442insC (MRPS16) MANE Select ENSP00000362036.3:n.*1441_*1442insC
ENST00000372940.3:c.275-93_275-92insC (MRPS16) ENSP00000362031.3:n.275-93_275-92insC
ENST00000372945.7:c.*1441_*1442insC (MRPS16) ENSP00000362036.3:n.*1441_*1442insC
ENST00000479005.1:n.2012_2013insC (MRPS16)
NM_016065.3:c.*1441_*1442insC (MRPS16) NP_057149.1:n.*1441_*1442insC
NR_038373.1:n.175+960_175+961insG (DNAJC9-AS1)
NM_016065.4:c.*1441_*1442insC (MRPS16) MANE Select NP_057149.1:n.*1441_*1442insC
Search 100 bp 5'
Search 100 bp 3'