Canonical Allele Identifier: CA2774715167
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166075_23166077del , CM000669.2:g.23166075_23166077del GRCh38
NC_000007.13:g.23205694_23205696del , CM000669.1:g.23205694_23205696del GRCh37
NC_000007.12:g.23172219_23172221del NCBI36
NG_016983.1:g.65342_65344del
NG_016983.2:g.65342_65344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+137_1177+139del MANE Select ENSP00000343273.4:n.1177+137_1177+139del
ENST00000339077.9:c.1177+137_1177+139del ENSP00000343273.4:n.1177+137_1177+139del
ENST00000409689.5:c.1033+137_1033+139del ENSP00000386263.1:n.1033+137_1033+139del
ENST00000469576.1:n.64+137_64+139del
ENST00000521082.5:c.*1185+137_*1185+139del ENSP00000430351.1:n.*1185+137_*1185+139del
NM_001031710.2:c.1177+137_1177+139del NP_001026880.2:n.1177+137_1177+139del
NM_018846.4:c.1033+137_1033+139del NP_061334.4:n.1033+137_1033+139del
NR_033328.1:n.1601+137_1601+139del
XM_006715753.1:c.1216+137_1216+139del XP_006715816.1:n.1216+137_1216+139del
XM_006715754.1:c.1150+137_1150+139del XP_006715817.1:n.1150+137_1150+139del
XM_006715755.1:c.1150+137_1150+139del XP_006715818.1:n.1150+137_1150+139del
XM_006715756.1:c.1072+137_1072+139del XP_006715819.1:n.1072+137_1072+139del
XM_006715753.3:c.1216+137_1216+139del XP_006715816.1:n.1216+137_1216+139del
XM_006715754.3:c.1150+137_1150+139del XP_006715817.1:n.1150+137_1150+139del
XM_006715755.3:c.1150+137_1150+139del XP_006715818.1:n.1150+137_1150+139del
XM_006715756.3:c.1072+137_1072+139del XP_006715819.1:n.1072+137_1072+139del
XM_017012439.2:c.1111+137_1111+139del XP_016867928.1:n.1111+137_1111+139del
NM_001031710.3:c.1177+137_1177+139del MANE Select NP_001026880.2:n.1177+137_1177+139del
NM_018846.5:c.1033+137_1033+139del NP_061334.4:n.1033+137_1033+139del
NR_033328.2:n.1550+137_1550+139del