Canonical Allele Identifier: CA5520861

Gene: DNAJC12

Linked Data

• dbSNP Id: rs748273832
• ExAC: 10:69571316 TG / T
• gnomAD v2: 10-69571316-TG-T
• MyVariant Identifiers: chr10:g.69571317del (hg19) ; chr10:g.67811559del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811560del , CM000672.2:g.67811560del	GRCh38
NC_000010.10:g.69571318del , CM000672.1:g.69571318del	GRCh37
NC_000010.9:g.69241324del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.262del MANE Select	ENSP00000225171.2:p.Gln88SerfsTer6
ENST00000225171.6:c.262del	ENSP00000225171.2:p.Gln88SerfsTer6
ENST00000339758.7:c.262del	ENSP00000343575.6:p.Gln88SerfsTer6
ENST00000480180.1:c.*281del	ENSP00000474804.1:n.*281del
ENST00000480963.5:c.*182del	ENSP00000473979.1:n.*182del
ENST00000483798.6:c.352del	ENSP00000474215.1:p.Gln118SerfsTer6
NM_021800.2:c.262del	NP_068572.1:p.Gln88SerfsTer6
NM_201262.1:c.262del	NP_957714.1:p.Gln88SerfsTer6
XM_011539967.1:c.292del	XP_011538269.1:p.Gln98SerfsTer6
XM_017016431.1:c.16del	XP_016871920.1:p.Gln6SerfsTer6
XM_017016432.2:c.16del	XP_016871921.1:p.Gln6SerfsTer6
NM_021800.3:c.262del MANE Select	NP_068572.1:p.Gln88SerfsTer6
NM_201262.2:c.262del	NP_957714.1:p.Gln88SerfsTer6