Allele Registry

Canonical Allele Identifier: CA658821846

Gene: DNAJB11 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr3:g.186572192_186572193insTT

GRCh37 chr3:g.186289981_186289982insTT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000664418

ClinVar Variation:

549848

dbSNP:

1553849920

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.186572192_186572193insTT , CM000665.2:g.186572192_186572193insTT	GRCh38
NC_000003.11:g.186289981_186289982insTT , CM000665.1:g.186289981_186289982insTT	GRCh37
NC_000003.10:g.187772675_187772676insTT	NCBI36
NG_034024.1:g.6517_6518insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265028.8:c.166_167insTT MANE Select	ENSP00000265028.3:p.Arg56LeufsTer?
ENST00000464877.2:n.364_365insTT
ENST00000495390.2:n.364_365insTT
ENST00000680338.1:c.166_167insTT	ENSP00000505624.1:p.Arg56LeufsTer?
ENST00000265028.7:c.166_167insTT	ENSP00000265028.3:p.Arg56LeufsTer?
ENST00000439351.5:c.166_167insTT	ENSP00000414398.1:p.Arg56LeufsTer?
ENST00000464877.1:n.89_90insTT
NM_016306.5:c.166_167insTT	NP_057390.1:p.Arg56LeufsTer?
NM_001378451.1:c.166_167insTT	NP_001365380.1:p.Arg56LeufsTer?
NM_016306.6:c.166_167insTT MANE Select	NP_057390.1:p.Arg56LeufsTer?
NR_165638.1:n.344_345insTT
NR_165639.1:n.344_345insTT
NR_165640.1:n.344_345insTT
NR_165641.1:n.344_345insTT
NR_165642.1:n.344_345insTT
NR_165643.1:n.344_345insTT

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