Canonical Allele Identifier: CA594357002
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1306827547
gnomAD v2: 10-75009087-TTG-T
gnomAD v3: 10-73249329-TTG-T
gnomAD v4: 10-73249329-TTG-T
MyVariant Identifiers: chr10:g.75009088_75009089del (hg19) chr10:g.73249330_73249331del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249332_73249333del , CM000672.2:g.73249332_73249333del GRCh38
NC_000010.10:g.75009090_75009091del , CM000672.1:g.75009090_75009091del GRCh37
NC_000010.9:g.74679096_74679097del NCBI36
NG_008096.1:g.8363_8364del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1521_*1522del (MRPS16) MANE Select ENSP00000362036.3:n.*1521_*1522del
ENST00000372940.3:c.275-13_275-12del (MRPS16) ENSP00000362031.3:n.275-13_275-12del
ENST00000372945.7:c.*1521_*1522del (MRPS16) ENSP00000362036.3:n.*1521_*1522del
ENST00000479005.1:n.2092_2093del (MRPS16)
NM_016065.3:c.*1521_*1522del (MRPS16) NP_057149.1:n.*1521_*1522del
NR_038373.1:n.175+882_175+883del (DNAJC9-AS1)
NM_016065.4:c.*1521_*1522del (MRPS16) MANE Select NP_057149.1:n.*1521_*1522del
Search 100 bp 5'
Search 100 bp 3'