Canonical Allele Identifier: CA5553406
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs757905656
ExAC: 10:75011675 CTTG / C
gnomAD v2: 10-75011675-CTTG-C
gnomAD v3: 10-73251917-CTTG-C
gnomAD v4: 10-73251917-CTTG-C
MyVariant Identifiers: chr10:g.75011676_75011678del (hg19) chr10:g.73251918_73251920del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251922_73251924del , CM000672.2:g.73251922_73251924del GRCh38
NC_000010.10:g.75011680_75011682del , CM000672.1:g.75011680_75011682del GRCh37
NC_000010.9:g.74681686_74681688del NCBI36
NG_008096.1:g.5774_5776del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.117_119del (MRPS16) MANE Select ENSP00000362036.3:p.Asn39del
ENST00000372940.3:c.117_119del (MRPS16) ENSP00000362031.3:p.Asn39del
ENST00000372945.7:c.117_119del (MRPS16) ENSP00000362036.3:p.Asn39del
ENST00000471251.5:n.250_252del (MRPS16)
ENST00000473427.1:n.207_209del (MRPS16)
ENST00000479005.1:n.274_276del (MRPS16)
NM_016065.3:c.117_119del (MRPS16) NP_057149.1:p.Asn39del
NR_038373.1:n.175+3472_175+3474del (DNAJC9-AS1)
XR_946059.1:n.120+181_120+183del
NM_016065.4:c.117_119del (MRPS16) MANE Select NP_057149.1:p.Asn39del
Search 100 bp 5'
Search 100 bp 3'