Canonical Allele Identifier: CA2716987

Gene: DNAJC19

Linked Data

• dbSNP Id: rs148074891
• ExAC: 3:180701884 TAC / T
• gnomAD v2: 3-180701884-TAC-T
• gnomAD v3: 3-180984096-TAC-T
• gnomAD v4: 3-180984096-TAC-T
• COSMIC: COSN23164078
• MyVariant Identifiers: chr3:g.180701887_180701888del (hg19) ; chr3:g.180701885_180701886del (hg19) ; chr3:g.180984099_180984100del (hg38) ; chr3:g.180984097_180984098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180984111_180984112del , CM000665.2:g.180984111_180984112del	GRCh38
NC_000003.11:g.180701899_180701900del , CM000665.1:g.180701899_180701900del	GRCh37
NC_000003.10:g.182184593_182184594del	NCBI36
NG_022933.1:g.10677_10678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482363.2:n.3006_3007del
ENST00000688055.1:c.*1820_*1821del	ENSP00000508688.1:n.*1820_*1821del
ENST00000382564.8:c.*542_*543del MANE Select	ENSP00000372005.2:n.*542_*543del
ENST00000382564.6:c.*542_*543del	ENSP00000372005.2:n.*542_*543del
ENST00000469657.5:c.*669_*670del	ENSP00000418058.1:n.*669_*670del
NM_001190233.1:c.*542_*543del	NP_001177162.1:n.*542_*543del
NM_145261.3:c.*542_*543del	NP_660304.1:n.*542_*543del
NR_033721.1:n.1013_1014del
NR_033722.1:n.985_986del
NR_033723.1:n.1010_1011del
NR_046073.1:n.859_860del
NM_145261.4:c.*542_*543del MANE Select	NP_660304.1:n.*542_*543del
NM_001190233.2:c.*542_*543del	NP_001177162.1:n.*542_*543del
NR_033721.2:n.975_976del
NR_033722.2:n.947_948del