Canonical Allele Identifier: CA594357702

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs1449043001
• gnomAD v2: 10-75011919-CTTT-C
• MyVariant Identifiers: chr10:g.75011920_75011922del (hg19) ; chr10:g.73252162_73252164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73252162_73252164del , CM000672.2:g.73252162_73252164del	GRCh38
NC_000010.10:g.75011920_75011922del , CM000672.1:g.75011920_75011922del	GRCh37
NC_000010.9:g.74681926_74681928del	NCBI36
NG_008096.1:g.5530_5532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.14-141_14-139del (MRPS16) MANE Select	ENSP00000362036.3:n.14-141_14-139del
ENST00000372940.3:c.14-141_14-139del (MRPS16)	ENSP00000362031.3:n.14-141_14-139del
ENST00000372945.7:c.14-141_14-139del (MRPS16)	ENSP00000362036.3:n.14-141_14-139del
ENST00000471251.5:n.146+95_146+97del (MRPS16)
ENST00000473427.1:n.104-141_104-139del (MRPS16)
ENST00000479005.1:n.157-127_157-125del (MRPS16)
NM_016065.3:c.14-141_14-139del (MRPS16)	NP_057149.1:n.14-141_14-139del
NR_038373.1:n.175+3712_175+3714del (DNAJC9-AS1)
XR_946059.1:n.120+421_120+423del
NM_016065.4:c.14-141_14-139del (MRPS16) MANE Select	NP_057149.1:n.14-141_14-139del