Canonical Allele Identifier: CA2595999824

Gene: DNAJC5

Linked Data

• dbSNP Id: rs2146312095
• gnomAD v3: 20-63933274-GTT-G
• gnomAD v4: 20-63933274-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63933275_63933276del , CM000682.2:g.63933275_63933276del	GRCh38
NC_000020.10:g.62564628_62564629del , CM000682.1:g.62564628_62564629del	GRCh37
NC_000020.9:g.62035072_62035073del	NCBI36
NG_029805.1:g.43174_43175del
NG_029805.2:g.43174_43175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703637.1:c.*1874_*1875del	ENSP00000515413.1:n.*1874_*1875del
ENST00000360864.9:c.*1707_*1708del MANE Select	ENSP00000354111.4:n.*1707_*1708del
ENST00000360864.8:c.*1707_*1708del	ENSP00000354111.4:n.*1707_*1708del
ENST00000470551.1:c.*1874_*1875del	ENSP00000434744.1:n.*1874_*1875del
NM_025219.2:c.*1707_*1708del	NP_079495.1:n.*1707_*1708del
XM_011529048.1:c.*1707_*1708del	XP_011527350.1:n.*1707_*1708del
XM_011529049.1:c.*1707_*1708del	XP_011527351.1:n.*1707_*1708del
XM_011529050.1:c.*1707_*1708del	XP_011527352.1:n.*1707_*1708del
XR_936629.1:n.3010_3011del
XR_936630.1:n.3268_3269del
XM_011529048.2:c.*1707_*1708del	XP_011527350.1:n.*1707_*1708del
XR_936629.2:n.3023_3024del
NM_025219.3:c.*1707_*1708del MANE Select	NP_079495.1:n.*1707_*1708del