Canonical Allele Identifier: CA2574580683
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

gnomAD v4: 10-73249413-TGGCATCAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249416_73249423del , CM000672.2:g.73249416_73249423del GRCh38
NC_000010.10:g.75009174_75009181del , CM000672.1:g.75009174_75009181del GRCh37
NC_000010.9:g.74679180_74679187del NCBI36
NG_008096.1:g.8273_8280del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1431_*1438del (MRPS16) MANE Select ENSP00000362036.3:n.*1431_*1438del
ENST00000372940.3:c.275-103_275-96del (MRPS16) ENSP00000362031.3:n.275-103_275-96del
ENST00000372945.7:c.*1431_*1438del (MRPS16) ENSP00000362036.3:n.*1431_*1438del
ENST00000479005.1:n.2002_2009del (MRPS16)
NM_016065.3:c.*1431_*1438del (MRPS16) NP_057149.1:n.*1431_*1438del
NR_038373.1:n.175+966_175+973del (DNAJC9-AS1)
NM_016065.4:c.*1431_*1438del (MRPS16) MANE Select NP_057149.1:n.*1431_*1438del
Search 100 bp 5'
Search 100 bp 3'