Canonical Allele Identifier: CA1919528892
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2044053828

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249319_73249322del , CM000672.2:g.73249319_73249322del GRCh38
NC_000010.10:g.75009077_75009080del , CM000672.1:g.75009077_75009080del GRCh37
NC_000010.9:g.74679083_74679086del NCBI36
NG_008096.1:g.8372_8375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1530_*1533del (MRPS16) MANE Select ENSP00000362036.3:n.*1530_*1533del
ENST00000372940.3:c.275-4_275-1del (MRPS16) ENSP00000362031.3:n.275-4_275-1del
ENST00000372945.7:c.*1530_*1533del (MRPS16) ENSP00000362036.3:n.*1530_*1533del
ENST00000479005.1:n.2101_2104del (MRPS16)
NM_016065.3:c.*1530_*1533del (MRPS16) NP_057149.1:n.*1530_*1533del
NR_038373.1:n.175+869_175+872del (DNAJC9-AS1)
NM_016065.4:c.*1530_*1533del (MRPS16) MANE Select NP_057149.1:n.*1530_*1533del