Canonical Allele Identifier: CA2609653936
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

gnomAD v4: 10-73249394-AAGATCCCTTATAGAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249395_73249409del , CM000672.2:g.73249395_73249409del GRCh38
NC_000010.10:g.75009153_75009167del , CM000672.1:g.75009153_75009167del GRCh37
NC_000010.9:g.74679159_74679173del NCBI36
NG_008096.1:g.8285_8299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1443_*1457del (MRPS16) MANE Select ENSP00000362036.3:n.*1443_*1457del
ENST00000372940.3:c.275-91_275-77del (MRPS16) ENSP00000362031.3:n.275-91_275-77del
ENST00000372945.7:c.*1443_*1457del (MRPS16) ENSP00000362036.3:n.*1443_*1457del
ENST00000479005.1:n.2014_2028del (MRPS16)
NM_016065.3:c.*1443_*1457del (MRPS16) NP_057149.1:n.*1443_*1457del
NR_038373.1:n.175+945_175+959del (DNAJC9-AS1)
NM_016065.4:c.*1443_*1457del (MRPS16) MANE Select NP_057149.1:n.*1443_*1457del
Search 100 bp 5'
Search 100 bp 3'