Canonical Allele Identifier: CA929492839
Gene: DNAJC12 HGNC NCBI

Linked Data

gnomAD v3: 10-67811518-AC-A
gnomAD v4: 10-67811518-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811521del , CM000672.2:g.67811521del GRCh38
NC_000010.10:g.69571279del , CM000672.1:g.69571279del GRCh37
NC_000010.9:g.69241285del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000225171.7:c.297+5del MANE Select ENSP00000225171.2:n.297+5del
ENST00000225171.6:c.297+5del ENSP00000225171.2:n.297+5del
ENST00000339758.7:c.302del ENSP00000343575.6:p.Gly101ValfsTer18
ENST00000480963.5:c.*217+5del ENSP00000473979.1:n.*217+5del
ENST00000483798.6:c.387+5del ENSP00000474215.1:n.387+5del
NM_021800.2:c.297+5del NP_068572.1:n.297+5del
NM_201262.1:c.302del NP_957714.1:p.Gly101ValfsTer18
XM_011539967.1:c.327+5del XP_011538269.1:n.327+5del
XM_017016431.1:c.51+5del XP_016871920.1:n.51+5del
XM_017016432.2:c.51+5del XP_016871921.1:n.51+5del
NM_021800.3:c.297+5del MANE Select NP_068572.1:n.297+5del
NM_201262.2:c.302del NP_957714.1:p.Gly101ValfsTer18
Search 100 bp 5'
Search 100 bp 3'