Canonical Allele Identifier: CA2609655312

Gene: MRPS16 DNAJC9-AS1

Linked Data

• gnomAD v4: 10-73252156-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73252161_73252163del , CM000672.2:g.73252161_73252163del	GRCh38
NC_000010.10:g.75011919_75011921del , CM000672.1:g.75011919_75011921del	GRCh37
NC_000010.9:g.74681925_74681927del	NCBI36
NG_008096.1:g.5535_5537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.14-136_14-134del (MRPS16) MANE Select	ENSP00000362036.3:n.14-136_14-134del
ENST00000372940.3:c.14-136_14-134del (MRPS16)	ENSP00000362031.3:n.14-136_14-134del
ENST00000372945.7:c.14-136_14-134del (MRPS16)	ENSP00000362036.3:n.14-136_14-134del
ENST00000471251.5:n.146+100_146+102del (MRPS16)
ENST00000473427.1:n.104-136_104-134del (MRPS16)
ENST00000479005.1:n.157-122_157-120del (MRPS16)
NM_016065.3:c.14-136_14-134del (MRPS16)	NP_057149.1:n.14-136_14-134del
NR_038373.1:n.175+3711_175+3713del (DNAJC9-AS1)
XR_946059.1:n.120+420_120+422del
NM_016065.4:c.14-136_14-134del (MRPS16) MANE Select	NP_057149.1:n.14-136_14-134del