Canonical Allele Identifier: CA209593292
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs867650155
gnomAD v3: 10-73251876-TAGG-T
gnomAD v4: 10-73251876-TAGG-T
MyVariant Identifiers: chr10:g.75011635_75011637del (hg19) chr10:g.73251878_73251880del (hg38) chr10:g.73251877_73251879del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251879_73251881del , CM000672.2:g.73251879_73251881del GRCh38
NC_000010.10:g.75011637_75011639del , CM000672.1:g.75011637_75011639del GRCh37
NC_000010.9:g.74681643_74681645del NCBI36
NG_008096.1:g.5815_5817del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.158_160del (MRPS16) MANE Select ENSP00000362036.3:p.Ser53del
ENST00000372940.3:c.158_160del (MRPS16) ENSP00000362031.3:p.Ser53del
ENST00000372945.7:c.158_160del (MRPS16) ENSP00000362036.3:p.Ser53del
ENST00000471251.5:n.291_293del (MRPS16)
ENST00000473427.1:n.248_250del (MRPS16)
ENST00000479005.1:n.315_317del (MRPS16)
NM_016065.3:c.158_160del (MRPS16) NP_057149.1:p.Ser53del
NR_038373.1:n.175+3429_175+3431del (DNAJC9-AS1)
XR_946059.1:n.120+138_120+140del
NM_016065.4:c.158_160del (MRPS16) MANE Select NP_057149.1:p.Ser53del
Search 100 bp 5'
Search 100 bp 3'