Canonical Allele Identifier: CA4590679
Gene: DNAJB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.157416075_157416077del , CM000669.2:g.157416075_157416077del GRCh38
NC_000007.13:g.157208769_157208771del , CM000669.1:g.157208769_157208771del GRCh37
NC_000007.12:g.156901530_156901532del NCBI36
NG_032573.1:g.84060_84062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262177.9:c.958_960del MANE Select ENSP00000262177.4:p.Lys320del
ENST00000262177.8:c.958_960del ENSP00000262177.4:p.Lys320del
ENST00000443280.5:c.613_615del ENSP00000396267.1:p.Lys205del
ENST00000459889.5:c.*5481_*5483del ENSP00000488263.1:n.*5481_*5483del
NM_058246.3:c.958_960del NP_490647.1:p.Lys320del
XM_006715823.1:c.751_753del XP_006715886.1:p.Lys251del
NM_001363676.1:c.613_615del NP_001350605.1:p.Lys205del
XM_006715823.2:c.751_753del XP_006715886.1:p.Lys251del
NM_058246.4:c.958_960del MANE Select NP_490647.1:p.Lys320del