Canonical Allele Identifier: CA5553435

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs775532035
• ExAC: 10:75011773 GGA / G
• gnomAD v2: 10-75011773-GGA-G
• gnomAD v3: 10-73252015-GGA-G
• gnomAD v4: 10-73252015-GGA-G
• MyVariant Identifiers: chr10:g.75011774_75011775del (hg19) ; chr10:g.73252016_73252017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73252019_73252020del , CM000672.2:g.73252019_73252020del	GRCh38
NC_000010.10:g.75011777_75011778del , CM000672.1:g.75011777_75011778del	GRCh37
NC_000010.9:g.74681783_74681784del	NCBI36
NG_008096.1:g.5677_5678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.20_21del (MRPS16) MANE Select	ENSP00000362036.3:p.Leu7ProfsTer?
ENST00000372940.3:c.20_21del (MRPS16)	ENSP00000362031.3:p.Leu7ProfsTer?
ENST00000372945.7:c.20_21del (MRPS16)	ENSP00000362036.3:p.Leu7ProfsTer?
ENST00000471251.5:n.153_154del (MRPS16)
ENST00000473427.1:n.110_111del (MRPS16)
ENST00000479005.1:n.177_178del (MRPS16)
NM_016065.3:c.20_21del (MRPS16)	NP_057149.1:p.Leu7ProfsTer?
NR_038373.1:n.175+3569_175+3570del (DNAJC9-AS1)
XR_946059.1:n.120+278_120+279del
NM_016065.4:c.20_21del (MRPS16) MANE Select	NP_057149.1:p.Leu7ProfsTer?