Canonical Allele Identifier: CA5553389

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs747457612
• ExAC: 10:75011602 G / GTTTT
• gnomAD v2: 10-75011602-G-GTTTT
• gnomAD v4: 10-73251844-G-GTTTT
• MyVariant Identifiers: chr10:g.75011602_75011603insTTTT (hg19) ; chr10:g.73251844_73251845insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73251846_73251849dup , CM000672.2:g.73251846_73251849dup	GRCh38
NC_000010.10:g.75011604_75011607dup , CM000672.1:g.75011604_75011607dup	GRCh37
NC_000010.9:g.74681610_74681613dup	NCBI36
NG_008096.1:g.5846_5849dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.189_192dup (MRPS16) MANE Select	ENSP00000362036.3:p.Leu65LysfsTer22
ENST00000372940.3:c.189_192dup (MRPS16)	ENSP00000362031.3:p.Leu65LysfsTer22
ENST00000372945.7:c.189_192dup (MRPS16)	ENSP00000362036.3:p.Leu65LysfsTer22
ENST00000471251.5:n.322_325dup (MRPS16)
ENST00000473427.1:n.279_282dup (MRPS16)
ENST00000479005.1:n.346_349dup (MRPS16)
NM_016065.3:c.189_192dup (MRPS16)	NP_057149.1:p.Leu65LysfsTer22
NR_038373.1:n.175+3396_175+3399dup (DNAJC9-AS1)
XR_946059.1:n.120+105_120+108dup
NM_016065.4:c.189_192dup (MRPS16) MANE Select	NP_057149.1:p.Leu65LysfsTer22