Canonical Allele Identifier: CA2609654029

Gene: MRPS16 DNAJC9-AS1

Linked Data

• gnomAD v4: 10-73249501-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73249505_73249506del , CM000672.2:g.73249505_73249506del	GRCh38
NC_000010.10:g.75009263_75009264del , CM000672.1:g.75009263_75009264del	GRCh37
NC_000010.9:g.74679269_74679270del	NCBI36
NG_008096.1:g.8191_8192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.*1349_*1350del (MRPS16) MANE Select	ENSP00000362036.3:n.*1349_*1350del
ENST00000372940.3:c.275-185_275-184del (MRPS16)	ENSP00000362031.3:n.275-185_275-184del
ENST00000372945.7:c.*1349_*1350del (MRPS16)	ENSP00000362036.3:n.*1349_*1350del
ENST00000479005.1:n.1920_1921del (MRPS16)
NM_016065.3:c.*1349_*1350del (MRPS16)	NP_057149.1:n.*1349_*1350del
NR_038373.1:n.175+1055_175+1056del (DNAJC9-AS1)
NM_016065.4:c.*1349_*1350del (MRPS16) MANE Select	NP_057149.1:n.*1349_*1350del