Canonical Allele Identifier: CA2774715163
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166073_23166075del , CM000669.2:g.23166073_23166075del GRCh38
NC_000007.13:g.23205692_23205694del , CM000669.1:g.23205692_23205694del GRCh37
NC_000007.12:g.23172217_23172219del NCBI36
NG_016983.1:g.65340_65342del
NG_016983.2:g.65340_65342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+135_1177+137del MANE Select ENSP00000343273.4:n.1177+135_1177+137del
ENST00000339077.9:c.1177+135_1177+137del ENSP00000343273.4:n.1177+135_1177+137del
ENST00000409689.5:c.1033+135_1033+137del ENSP00000386263.1:n.1033+135_1033+137del
ENST00000469576.1:n.64+135_64+137del
ENST00000521082.5:c.*1185+135_*1185+137del ENSP00000430351.1:n.*1185+135_*1185+137del
NM_001031710.2:c.1177+135_1177+137del NP_001026880.2:n.1177+135_1177+137del
NM_018846.4:c.1033+135_1033+137del NP_061334.4:n.1033+135_1033+137del
NR_033328.1:n.1601+135_1601+137del
XM_006715753.1:c.1216+135_1216+137del XP_006715816.1:n.1216+135_1216+137del
XM_006715754.1:c.1150+135_1150+137del XP_006715817.1:n.1150+135_1150+137del
XM_006715755.1:c.1150+135_1150+137del XP_006715818.1:n.1150+135_1150+137del
XM_006715756.1:c.1072+135_1072+137del XP_006715819.1:n.1072+135_1072+137del
XM_006715753.3:c.1216+135_1216+137del XP_006715816.1:n.1216+135_1216+137del
XM_006715754.3:c.1150+135_1150+137del XP_006715817.1:n.1150+135_1150+137del
XM_006715755.3:c.1150+135_1150+137del XP_006715818.1:n.1150+135_1150+137del
XM_006715756.3:c.1072+135_1072+137del XP_006715819.1:n.1072+135_1072+137del
XM_017012439.2:c.1111+135_1111+137del XP_016867928.1:n.1111+135_1111+137del
NM_001031710.3:c.1177+135_1177+137del MANE Select NP_001026880.2:n.1177+135_1177+137del
NM_018846.5:c.1033+135_1033+137del NP_061334.4:n.1033+135_1033+137del
NR_033328.2:n.1550+135_1550+137del