Canonical Allele Identifier: CA2714093318
Gene: KLHL7 HGNC NCBI

Linked Data

dbSNP Id: rs2128469499

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165904del , CM000669.2:g.23165904del GRCh38
NC_000007.13:g.23205523del , CM000669.1:g.23205523del GRCh37
NC_000007.12:g.23172048del NCBI36
NG_016983.1:g.65171del
NG_016983.2:g.65171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1143del MANE Select ENSP00000343273.4:p.Gly382AlafsTer11
ENST00000339077.9:c.1143del ENSP00000343273.4:p.Gly382AlafsTer11
ENST00000409689.5:c.999del ENSP00000386263.1:p.Gly334AlafsTer11
ENST00000469576.1:n.30del
ENST00000521082.5:c.*1151del ENSP00000430351.1:n.*1151del
NM_001031710.2:c.1143del NP_001026880.2:p.Gly382AlafsTer11
NM_018846.4:c.999del NP_061334.4:p.Gly334AlafsTer11
NR_033328.1:n.1567del
XM_006715753.1:c.1182del XP_006715816.1:p.Gly395AlafsTer11
XM_006715754.1:c.1116del XP_006715817.1:p.Gly373AlafsTer11
XM_006715755.1:c.1116del XP_006715818.1:p.Gly373AlafsTer11
XM_006715756.1:c.1038del XP_006715819.1:p.Gly347AlafsTer11
XM_006715753.3:c.1182del XP_006715816.1:p.Gly395AlafsTer11
XM_006715754.3:c.1116del XP_006715817.1:p.Gly373AlafsTer11
XM_006715755.3:c.1116del XP_006715818.1:p.Gly373AlafsTer11
XM_006715756.3:c.1038del XP_006715819.1:p.Gly347AlafsTer11
XM_017012439.2:c.1077del XP_016867928.1:p.Gly360AlafsTer11
NM_001031710.3:c.1143del MANE Select NP_001026880.2:p.Gly382AlafsTer11
NM_018846.5:c.999del NP_061334.4:p.Gly334AlafsTer11
NR_033328.2:n.1516del