Canonical Allele Identifier: CA2774715058
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165906_23165908del , CM000669.2:g.23165906_23165908del GRCh38
NC_000007.13:g.23205525_23205527del , CM000669.1:g.23205525_23205527del GRCh37
NC_000007.12:g.23172050_23172052del NCBI36
NG_016983.1:g.65173_65175del
NG_016983.2:g.65173_65175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1145_1147del MANE Select ENSP00000343273.4:p.Gly382_Lys383delinsGlu
ENST00000339077.9:c.1145_1147del ENSP00000343273.4:p.Gly382_Lys383delinsGlu
ENST00000409689.5:c.1001_1003del ENSP00000386263.1:p.Gly334_Lys335delinsGlu
ENST00000469576.1:n.32_34del
ENST00000521082.5:c.*1153_*1155del ENSP00000430351.1:n.*1153_*1155del
NM_001031710.2:c.1145_1147del NP_001026880.2:p.Gly382_Lys383delinsGlu
NM_018846.4:c.1001_1003del NP_061334.4:p.Gly334_Lys335delinsGlu
NR_033328.1:n.1569_1571del
XM_006715753.1:c.1184_1186del XP_006715816.1:p.Gly395_Lys396delinsGlu
XM_006715754.1:c.1118_1120del XP_006715817.1:p.Gly373_Lys374delinsGlu
XM_006715755.1:c.1118_1120del XP_006715818.1:p.Gly373_Lys374delinsGlu
XM_006715756.1:c.1040_1042del XP_006715819.1:p.Gly347_Lys348delinsGlu
XM_006715753.3:c.1184_1186del XP_006715816.1:p.Gly395_Lys396delinsGlu
XM_006715754.3:c.1118_1120del XP_006715817.1:p.Gly373_Lys374delinsGlu
XM_006715755.3:c.1118_1120del XP_006715818.1:p.Gly373_Lys374delinsGlu
XM_006715756.3:c.1040_1042del XP_006715819.1:p.Gly347_Lys348delinsGlu
XM_017012439.2:c.1079_1081del XP_016867928.1:p.Gly360_Lys361delinsGlu
NM_001031710.3:c.1145_1147del MANE Select NP_001026880.2:p.Gly382_Lys383delinsGlu
NM_018846.5:c.1001_1003del NP_061334.4:p.Gly334_Lys335delinsGlu
NR_033328.2:n.1518_1520del