Canonical Allele Identifier: CA2609654023

Gene: MRPS16 DNAJC9-AS1

Linked Data

• gnomAD v4: 10-73249492-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73249494_73249495del , CM000672.2:g.73249494_73249495del	GRCh38
NC_000010.10:g.75009252_75009253del , CM000672.1:g.75009252_75009253del	GRCh37
NC_000010.9:g.74679258_74679259del	NCBI36
NG_008096.1:g.8200_8201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372945.8:c.*1358_*1359del (MRPS16) MANE Select	ENSP00000362036.3:n.*1358_*1359del
ENST00000372940.3:c.275-176_275-175del (MRPS16)	ENSP00000362031.3:n.275-176_275-175del
ENST00000372945.7:c.*1358_*1359del (MRPS16)	ENSP00000362036.3:n.*1358_*1359del
ENST00000479005.1:n.1929_1930del (MRPS16)
NM_016065.3:c.*1358_*1359del (MRPS16)	NP_057149.1:n.*1358_*1359del
NR_038373.1:n.175+1044_175+1045del (DNAJC9-AS1)
NM_016065.4:c.*1358_*1359del (MRPS16) MANE Select	NP_057149.1:n.*1358_*1359del