Canonical Allele Identifier: CA10632172
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs868436163
gnomAD v2: 10-75009198-CAAG-C
gnomAD v3: 10-73249440-CAAG-C
gnomAD v4: 10-73249440-CAAG-C
MyVariant Identifiers: chr10:g.75009199_75009201del (hg19) chr10:g.73249441_73249443del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249444_73249446del , CM000672.2:g.73249444_73249446del GRCh38
NC_000010.10:g.75009202_75009204del , CM000672.1:g.75009202_75009204del GRCh37
NC_000010.9:g.74679208_74679210del NCBI36
NG_008096.1:g.8251_8253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1409_*1411del (MRPS16) MANE Select ENSP00000362036.3:n.*1409_*1411del
ENST00000372940.3:c.275-125_275-123del (MRPS16) ENSP00000362031.3:n.275-125_275-123del
ENST00000372945.7:c.*1409_*1411del (MRPS16) ENSP00000362036.3:n.*1409_*1411del
ENST00000479005.1:n.1980_1982del (MRPS16)
NM_016065.3:c.*1409_*1411del (MRPS16) NP_057149.1:n.*1409_*1411del
NR_038373.1:n.175+994_175+996del (DNAJC9-AS1)
NM_016065.4:c.*1409_*1411del (MRPS16) MANE Select NP_057149.1:n.*1409_*1411del
Search 100 bp 5'
Search 100 bp 3'