Canonical Allele Identifier: CA2609655229

Gene: MRPS16 DNAJC9-AS1

Linked Data

• gnomAD v4: 10-73251815-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251816del , CM000672.2:g.73251816del	GRCh38
NC_000010.10:g.75011574del , CM000672.1:g.75011574del	GRCh37
NC_000010.9:g.74681580del	NCBI36
NG_008096.1:g.5878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.221del (MRPS16) MANE Select	ENSP00000362036.3:p.Arg74LeufsTer29
ENST00000372940.3:c.221del (MRPS16)	ENSP00000362031.3:p.Arg74LeufsTer?
ENST00000372945.7:c.221del (MRPS16)	ENSP00000362036.3:p.Arg74LeufsTer29
ENST00000471251.5:n.354del (MRPS16)
ENST00000473427.1:n.311del (MRPS16)
ENST00000479005.1:n.378del (MRPS16)
NM_016065.3:c.221del (MRPS16)	NP_057149.1:p.Arg74LeufsTer29
NR_038373.1:n.175+3366del (DNAJC9-AS1)
XR_946059.1:n.120+75del
NM_016065.4:c.221del (MRPS16) MANE Select	NP_057149.1:p.Arg74LeufsTer29