Canonical Allele Identifier: CA2774715072
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165985_23165986del , CM000669.2:g.23165985_23165986del GRCh38
NC_000007.13:g.23205604_23205605del , CM000669.1:g.23205604_23205605del GRCh37
NC_000007.12:g.23172129_23172130del NCBI36
NG_016983.1:g.65252_65253del
NG_016983.2:g.65252_65253del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+47_1177+48del MANE Select ENSP00000343273.4:n.1177+47_1177+48del
ENST00000339077.9:c.1177+47_1177+48del ENSP00000343273.4:n.1177+47_1177+48del
ENST00000409689.5:c.1033+47_1033+48del ENSP00000386263.1:n.1033+47_1033+48del
ENST00000469576.1:n.64+47_64+48del
ENST00000521082.5:c.*1185+47_*1185+48del ENSP00000430351.1:n.*1185+47_*1185+48del
NM_001031710.2:c.1177+47_1177+48del NP_001026880.2:n.1177+47_1177+48del
NM_018846.4:c.1033+47_1033+48del NP_061334.4:n.1033+47_1033+48del
NR_033328.1:n.1601+47_1601+48del
XM_006715753.1:c.1216+47_1216+48del XP_006715816.1:n.1216+47_1216+48del
XM_006715754.1:c.1150+47_1150+48del XP_006715817.1:n.1150+47_1150+48del
XM_006715755.1:c.1150+47_1150+48del XP_006715818.1:n.1150+47_1150+48del
XM_006715756.1:c.1072+47_1072+48del XP_006715819.1:n.1072+47_1072+48del
XM_006715753.3:c.1216+47_1216+48del XP_006715816.1:n.1216+47_1216+48del
XM_006715754.3:c.1150+47_1150+48del XP_006715817.1:n.1150+47_1150+48del
XM_006715755.3:c.1150+47_1150+48del XP_006715818.1:n.1150+47_1150+48del
XM_006715756.3:c.1072+47_1072+48del XP_006715819.1:n.1072+47_1072+48del
XM_017012439.2:c.1111+47_1111+48del XP_016867928.1:n.1111+47_1111+48del
NM_001031710.3:c.1177+47_1177+48del MANE Select NP_001026880.2:n.1177+47_1177+48del
NM_018846.5:c.1033+47_1033+48del NP_061334.4:n.1033+47_1033+48del
NR_033328.2:n.1550+47_1550+48del