Canonical Allele Identifier: CA209593503

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs993842333
• gnomAD v2: 10-75011916-CTTCT-C
• gnomAD v4: 10-73252158-CTTCT-C
• MyVariant Identifiers: chr10:g.75011917_75011920del (hg19) ; chr10:g.73252159_73252162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73252161_73252164del , CM000672.2:g.73252161_73252164del	GRCh38
NC_000010.10:g.75011919_75011922del , CM000672.1:g.75011919_75011922del	GRCh37
NC_000010.9:g.74681925_74681928del	NCBI36
NG_008096.1:g.5532_5535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.14-139_14-136del (MRPS16) MANE Select	ENSP00000362036.3:n.14-139_14-136del
ENST00000372940.3:c.14-139_14-136del (MRPS16)	ENSP00000362031.3:n.14-139_14-136del
ENST00000372945.7:c.14-139_14-136del (MRPS16)	ENSP00000362036.3:n.14-139_14-136del
ENST00000471251.5:n.146+97_146+100del (MRPS16)
ENST00000473427.1:n.104-139_104-136del (MRPS16)
ENST00000479005.1:n.157-125_157-122del (MRPS16)
NM_016065.3:c.14-139_14-136del (MRPS16)	NP_057149.1:n.14-139_14-136del
NR_038373.1:n.175+3711_175+3714del (DNAJC9-AS1)
XR_946059.1:n.120+420_120+423del
NM_016065.4:c.14-139_14-136del (MRPS16) MANE Select	NP_057149.1:n.14-139_14-136del