Canonical Allele Identifier: CA2774715123
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166030_23166037del , CM000669.2:g.23166030_23166037del GRCh38
NC_000007.13:g.23205649_23205656del , CM000669.1:g.23205649_23205656del GRCh37
NC_000007.12:g.23172174_23172181del NCBI36
NG_016983.1:g.65297_65304del
NG_016983.2:g.65297_65304del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+92_1177+99del MANE Select ENSP00000343273.4:n.1177+92_1177+99del
ENST00000339077.9:c.1177+92_1177+99del ENSP00000343273.4:n.1177+92_1177+99del
ENST00000409689.5:c.1033+92_1033+99del ENSP00000386263.1:n.1033+92_1033+99del
ENST00000469576.1:n.64+92_64+99del
ENST00000521082.5:c.*1185+92_*1185+99del ENSP00000430351.1:n.*1185+92_*1185+99del
NM_001031710.2:c.1177+92_1177+99del NP_001026880.2:n.1177+92_1177+99del
NM_018846.4:c.1033+92_1033+99del NP_061334.4:n.1033+92_1033+99del
NR_033328.1:n.1601+92_1601+99del
XM_006715753.1:c.1216+92_1216+99del XP_006715816.1:n.1216+92_1216+99del
XM_006715754.1:c.1150+92_1150+99del XP_006715817.1:n.1150+92_1150+99del
XM_006715755.1:c.1150+92_1150+99del XP_006715818.1:n.1150+92_1150+99del
XM_006715756.1:c.1072+92_1072+99del XP_006715819.1:n.1072+92_1072+99del
XM_006715753.3:c.1216+92_1216+99del XP_006715816.1:n.1216+92_1216+99del
XM_006715754.3:c.1150+92_1150+99del XP_006715817.1:n.1150+92_1150+99del
XM_006715755.3:c.1150+92_1150+99del XP_006715818.1:n.1150+92_1150+99del
XM_006715756.3:c.1072+92_1072+99del XP_006715819.1:n.1072+92_1072+99del
XM_017012439.2:c.1111+92_1111+99del XP_016867928.1:n.1111+92_1111+99del
NM_001031710.3:c.1177+92_1177+99del MANE Select NP_001026880.2:n.1177+92_1177+99del
NM_018846.5:c.1033+92_1033+99del NP_061334.4:n.1033+92_1033+99del
NR_033328.2:n.1550+92_1550+99del