Canonical Allele Identifier: CA2578846440
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23167818_23167819del , CM000669.2:g.23167818_23167819del GRCh38
NC_000007.13:g.23207437_23207438del , CM000669.1:g.23207437_23207438del GRCh37
NC_000007.12:g.23173962_23173963del NCBI36
NG_016983.1:g.67085_67086del
NG_016983.2:g.67085_67086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1178-18_1178-17del MANE Select ENSP00000343273.4:n.1178-18_1178-17del
ENST00000339077.9:c.1178-18_1178-17del ENSP00000343273.4:n.1178-18_1178-17del
ENST00000409689.5:c.1034-18_1034-17del ENSP00000386263.1:n.1034-18_1034-17del
ENST00000469576.1:n.65-18_65-17del
ENST00000521082.5:c.*1186-18_*1186-17del ENSP00000430351.1:n.*1186-18_*1186-17del
NM_001031710.2:c.1178-18_1178-17del NP_001026880.2:n.1178-18_1178-17del
NM_018846.4:c.1034-18_1034-17del NP_061334.4:n.1034-18_1034-17del
NR_033328.1:n.1602-18_1602-17del
XM_006715753.1:c.1217-18_1217-17del XP_006715816.1:n.1217-18_1217-17del
XM_006715754.1:c.1151-18_1151-17del XP_006715817.1:n.1151-18_1151-17del
XM_006715755.1:c.1151-18_1151-17del XP_006715818.1:n.1151-18_1151-17del
XM_006715756.1:c.1073-18_1073-17del XP_006715819.1:n.1073-18_1073-17del
XM_006715753.3:c.1217-18_1217-17del XP_006715816.1:n.1217-18_1217-17del
XM_006715754.3:c.1151-18_1151-17del XP_006715817.1:n.1151-18_1151-17del
XM_006715755.3:c.1151-18_1151-17del XP_006715818.1:n.1151-18_1151-17del
XM_006715756.3:c.1073-18_1073-17del XP_006715819.1:n.1073-18_1073-17del
XM_017012439.2:c.1112-18_1112-17del XP_016867928.1:n.1112-18_1112-17del
NM_001031710.3:c.1178-18_1178-17del MANE Select NP_001026880.2:n.1178-18_1178-17del
NM_018846.5:c.1034-18_1034-17del NP_061334.4:n.1034-18_1034-17del
NR_033328.2:n.1551-18_1551-17del