Canonical Allele Identifier: CA209592606

Gene: MRPS16 DNAJC9-AS1

Linked Data

• dbSNP Id: rs199860739
• gnomAD v3: 10-73249488-TAC-T
• gnomAD v4: 10-73249488-TAC-T
• MyVariant Identifiers: chr10:g.75009247_75009248del (hg19) ; chr10:g.73249489_73249490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73249490_73249491del , CM000672.2:g.73249490_73249491del	GRCh38
NC_000010.10:g.75009248_75009249del , CM000672.1:g.75009248_75009249del	GRCh37
NC_000010.9:g.74679254_74679255del	NCBI36
NG_008096.1:g.8204_8205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.*1362_*1363del (MRPS16) MANE Select	ENSP00000362036.3:n.*1362_*1363del
ENST00000372940.3:c.275-172_275-171del (MRPS16)	ENSP00000362031.3:n.275-172_275-171del
ENST00000372945.7:c.*1362_*1363del (MRPS16)	ENSP00000362036.3:n.*1362_*1363del
ENST00000479005.1:n.1933_1934del (MRPS16)
NM_016065.3:c.*1362_*1363del (MRPS16)	NP_057149.1:n.*1362_*1363del
NR_038373.1:n.175+1040_175+1041del (DNAJC9-AS1)
NM_016065.4:c.*1362_*1363del (MRPS16) MANE Select	NP_057149.1:n.*1362_*1363del