Canonical Allele Identifier: CA16618659
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 418785
ClinVar RCV Id: RCV000482114
dbSNP Id: rs1064793432
MyVariant Identifiers: chr8:g.61714093_61714094del (hg19) chr8:g.60801534_60801535del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60801534_60801535del , CM000670.2:g.60801534_60801535del GRCh38
NC_000008.10:g.61714093_61714094del , CM000670.1:g.61714093_61714094del GRCh37
NC_000008.9:g.61876647_61876648del NCBI36
NG_007009.1:g.127755_127756del , LRG_176:g.127755_127756del

Transcript Alleles

HGVS Amino-acid change
ENST00000695848.1:n.2896_2897del
ENST00000695849.1:n.2896_2897del
ENST00000695853.1:c.2383_2384del ENSP00000512218.1:p.Val795Ter
ENST00000423902.7:c.2383_2384del MANE Select ENSP00000392028.1:p.Val795Ter
ENST00000423902.6:c.2383_2384del ENSP00000392028.1:p.Val795Ter
ENST00000524602.5:c.1716+20484_1716+20485del ENSP00000437061.1:n.1716+20484_1716+20485...
ENST00000525508.1:c.2383_2384del ENSP00000436027.1:p.Val795Ter
NM_001316690.1:c.1716+20484_1716+20485del NP_001303619.1:n.1716+20484_1716+20485del...
NM_017780.3:c.2383_2384del NP_060250.2:p.Val795Ter
XM_011517553.1:c.2383_2384del XP_011515855.1:p.Val795Ter
XM_011517554.1:c.2383_2384del XP_011515856.1:p.Val795Ter
XM_011517555.1:c.2383_2384del XP_011515857.1:p.Val795Ter
XM_011517556.1:c.2383_2384del XP_011515858.1:p.Val795Ter
XM_011517557.1:c.370_371del XP_011515859.1:p.Val124Ter
XM_011517560.1:c.2383_2384del XP_011515862.1:p.Val795Ter
XR_928948.1:n.201-2276_201-2275del
XM_011517553.2:c.2383_2384del XP_011515855.1:p.Val795Ter
XM_011517554.3:c.2383_2384del XP_011515856.1:p.Val795Ter
XM_011517555.2:c.2383_2384del XP_011515857.1:p.Val795Ter
XM_011517560.2:c.2383_2384del XP_011515862.1:p.Val795Ter
XM_017013612.1:c.2383_2384del XP_016869101.1:p.Val795Ter
XM_017013613.1:c.2383_2384del XP_016869102.1:p.Val795Ter
NM_017780.4:c.2383_2384del MANE Select NP_060250.2:p.Val795Ter
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