Canonical Allele Identifier: CA3228400

Gene: DNAJC21

Linked Data

• ClinVar Variation Id: 2181302
• ClinVar RCV Id: RCV002606075
• dbSNP Id: rs777941059
• ExAC: 5:34935933 GA / G
• gnomAD v2: 5-34935933-GA-G
• gnomAD v4: 5-34935828-GA-G
• MyVariant Identifiers: chr5:g.34935934del (hg19) ; chr5:g.34935829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34935832del , CM000667.2:g.34935832del	GRCh38
NC_000005.9:g.34935937del , CM000667.1:g.34935937del	GRCh37
NC_000005.8:g.34971694del	NCBI36
NG_052822.1:g.11293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506762.2:c.-35del	ENSP00000513864.1:n.-35del
ENST00000512136.2:n.541del
ENST00000644357.2:c.-35del	ENSP00000493850.2:n.-35del
ENST00000698657.1:n.472del
ENST00000698658.1:n.472del
ENST00000642285.1:c.-35del	ENSP00000493883.1:n.-35del
ENST00000642675.1:c.-35del	ENSP00000494173.1:n.-35del
ENST00000642851.1:c.314del	ENSP00000496545.1:p.Lys105ArgfsTer13
ENST00000644357.1:c.-35del	ENSP00000493850.1:n.-35del
ENST00000646714.1:c.-35del	ENSP00000495883.1:n.-35del
ENST00000648817.1:c.314del MANE Select	ENSP00000497410.1:p.Lys105ArgfsTer13
ENST00000342382.8:c.314del	ENSP00000343728.4:p.Lys105ArgfsTer13
ENST00000382021.2:c.314del	ENSP00000371451.2:p.Lys105ArgfsTer13
NM_001012339.2:c.314del	NP_001012339.2:p.Lys105ArgfsTer13
NM_194283.3:c.314del	NP_919259.3:p.Lys105ArgfsTer13
XM_005248249.3:c.314del	XP_005248306.1:p.Lys105ArgfsTer13
XM_005248250.2:c.314del	XP_005248307.1:p.Lys105ArgfsTer13
XM_011513965.1:c.314del	XP_011512267.1:p.Lys105ArgfsTer13
XM_011513966.1:c.314del	XP_011512268.1:p.Lys105ArgfsTer13
NM_001012339.3:c.314del MANE Select	NP_001012339.2:p.Lys105ArgfsTer13
NM_001348420.1:c.314del	NP_001335349.1:p.Lys105ArgfsTer13
XM_005248250.3:c.575del	XP_005248307.2:p.Lys192ArgfsTer13
XM_011513965.2:c.575del	XP_011512267.2:p.Lys192ArgfsTer13
XM_011513966.2:c.575del	XP_011512268.2:p.Lys192ArgfsTer13
NM_001348420.2:c.314del	NP_001335349.1:p.Lys105ArgfsTer13
NM_194283.4:c.314del	NP_919259.3:p.Lys105ArgfsTer13