Canonical Allele Identifier: CA1919533097
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73251876_73251879delinsTAGG , CM000672.2:g.73251876_73251879delinsTAGG GRCh38
NC_000010.10:g.75011634_75011637delinsTAGG , CM000672.1:g.75011634_75011637delinsTAGG GRCh37
NC_000010.9:g.74681640_74681643delinsTAGG NCBI36
NG_008096.1:g.5815_5818delinsCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.158_161delinsCCTA (MRPS16) MANE Select ENSP00000362036.3:p.Ser53=
ENST00000372940.3:c.158_161delinsCCTA (MRPS16) ENSP00000362031.3:p.Ser53=
ENST00000372945.7:c.158_161delinsCCTA (MRPS16) ENSP00000362036.3:p.Ser53=
ENST00000471251.5:n.291_294delinsCCTA (MRPS16)
ENST00000473427.1:n.248_251delinsCCTA (MRPS16)
ENST00000479005.1:n.315_318delinsCCTA (MRPS16)
NM_016065.3:c.158_161delinsCCTA (MRPS16) NP_057149.1:p.Ser53=
NR_038373.1:n.175+3426_175+3429delinsTAGG (DNAJC9-AS1)
XR_946059.1:n.120+135_120+138delinsTAGG
NM_016065.4:c.158_161delinsCCTA (MRPS16) MANE Select NP_057149.1:p.Ser53=