Canonical Allele Identifier: CA594356993
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1216573860
gnomAD v2: 10-75009042-TTCAGGCTTTTAAAAC-T
gnomAD v4: 10-73249284-TTCAGGCTTTTAAAAC-T
MyVariant Identifiers: chr10:g.75009043_75009057del (hg19) chr10:g.73249285_73249299del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249285_73249299del , CM000672.2:g.73249285_73249299del GRCh38
NC_000010.10:g.75009043_75009057del , CM000672.1:g.75009043_75009057del GRCh37
NC_000010.9:g.74679049_74679063del NCBI36
NG_008096.1:g.8395_8409del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1553_*1567del (MRPS16) MANE Select ENSP00000362036.3:n.*1553_*1567del
ENST00000372940.3:c.294_*8del (MRPS16) ENSP00000362031.3:n.[c.294_*8del;Phe99ValfsTer13]
ENST00000372945.7:c.*1553_*1567del (MRPS16) ENSP00000362036.3:n.*1553_*1567del
ENST00000479005.1:n.2124_2138del (MRPS16)
NM_016065.3:c.*1553_*1567del (MRPS16) NP_057149.1:n.*1553_*1567del
NR_038373.1:n.175+835_175+849del (DNAJC9-AS1)
NM_016065.4:c.*1553_*1567del (MRPS16) MANE Select NP_057149.1:n.*1553_*1567del
Search 100 bp 5'
Search 100 bp 3'