Canonical Allele Identifier: CA1919528942
Gene: MRPS16 HGNC NCBI
DNAJC9-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.73249443_73249447delinsGAAGT , CM000672.2:g.73249443_73249447delinsGAAGT GRCh38
NC_000010.10:g.75009201_75009205delinsGAAGT , CM000672.1:g.75009201_75009205delinsGAAGT GRCh37
NC_000010.9:g.74679207_74679211delinsGAAGT NCBI36
NG_008096.1:g.8247_8251delinsACTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372945.8:c.*1405_*1409delinsACTTC (MRPS16) MANE Select ENSP00000362036.3:n.*1405_*1409delinsACTTC
ENST00000372940.3:c.275-129_275-125delinsACTTC (MRPS16) ENSP00000362031.3:n.275-129_275-125delinsACTTC
ENST00000372945.7:c.*1405_*1409delinsACTTC (MRPS16) ENSP00000362036.3:n.*1405_*1409delinsACTTC
ENST00000479005.1:n.1976_1980delinsACTTC (MRPS16)
NM_016065.3:c.*1405_*1409delinsACTTC (MRPS16) NP_057149.1:n.*1405_*1409delinsACTTC
NR_038373.1:n.175+993_175+997delinsGAAGT (DNAJC9-AS1)
NM_016065.4:c.*1405_*1409delinsACTTC (MRPS16) MANE Select NP_057149.1:n.*1405_*1409delinsACTTC