Canonical Allele Identifier: CA10576259
Gene: KLHL7 HGNC NCBI

Linked Data

ClinVar Variation Id: 226129
ClinVar RCV Id: RCV000239468 RCV000491711
dbSNP Id: rs879255557
MyVariant Identifiers: chr7:g.23205402del (hg19) chr7:g.23165783del (hg38)
PubMed: PMID:27392078
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165783del , CM000669.2:g.23165783del GRCh38
NC_000007.13:g.23205402del , CM000669.1:g.23205402del GRCh37
NC_000007.12:g.23171927del NCBI36
NG_016983.1:g.65050del
NG_016983.2:g.65050del

Transcript Alleles

HGVS Amino-acid change
ENST00000339077.10:c.1022del MANE Select ENSP00000343273.4:p.Leu341TrpfsTer9
ENST00000339077.9:c.1022del ENSP00000343273.4:p.Leu341TrpfsTer9
ENST00000409689.5:c.878del ENSP00000386263.1:p.Leu293TrpfsTer9
ENST00000521082.5:c.*1030del ENSP00000430351.1:n.*1030del
NM_001031710.2:c.1022del NP_001026880.2:p.Leu341TrpfsTer9
NM_018846.4:c.878del NP_061334.4:p.Leu293TrpfsTer9
NR_033328.1:n.1446del
XM_006715753.1:c.1061del XP_006715816.1:p.Leu354TrpfsTer9
XM_006715754.1:c.995del XP_006715817.1:p.Leu332TrpfsTer9
XM_006715755.1:c.995del XP_006715818.1:p.Leu332TrpfsTer9
XM_006715756.1:c.917del XP_006715819.1:p.Leu306TrpfsTer9
XM_006715753.3:c.1061del XP_006715816.1:p.Leu354TrpfsTer9
XM_006715754.3:c.995del XP_006715817.1:p.Leu332TrpfsTer9
XM_006715755.3:c.995del XP_006715818.1:p.Leu332TrpfsTer9
XM_006715756.3:c.917del XP_006715819.1:p.Leu306TrpfsTer9
XM_017012439.2:c.956del XP_016867928.1:p.Leu319TrpfsTer9
NM_001031710.3:c.1022del MANE Select NP_001026880.2:p.Leu341TrpfsTer9
NM_018846.5:c.878del NP_061334.4:p.Leu293TrpfsTer9
NR_033328.2:n.1395del
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