Canonical Allele Identifier: CA2774715146
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166055_23166059del , CM000669.2:g.23166055_23166059del GRCh38
NC_000007.13:g.23205674_23205678del , CM000669.1:g.23205674_23205678del GRCh37
NC_000007.12:g.23172199_23172203del NCBI36
NG_016983.1:g.65322_65326del
NG_016983.2:g.65322_65326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+117_1177+121del MANE Select ENSP00000343273.4:n.1177+117_1177+121del
ENST00000339077.9:c.1177+117_1177+121del ENSP00000343273.4:n.1177+117_1177+121del
ENST00000409689.5:c.1033+117_1033+121del ENSP00000386263.1:n.1033+117_1033+121del
ENST00000469576.1:n.64+117_64+121del
ENST00000521082.5:c.*1185+117_*1185+121del ENSP00000430351.1:n.*1185+117_*1185+121del
NM_001031710.2:c.1177+117_1177+121del NP_001026880.2:n.1177+117_1177+121del
NM_018846.4:c.1033+117_1033+121del NP_061334.4:n.1033+117_1033+121del
NR_033328.1:n.1601+117_1601+121del
XM_006715753.1:c.1216+117_1216+121del XP_006715816.1:n.1216+117_1216+121del
XM_006715754.1:c.1150+117_1150+121del XP_006715817.1:n.1150+117_1150+121del
XM_006715755.1:c.1150+117_1150+121del XP_006715818.1:n.1150+117_1150+121del
XM_006715756.1:c.1072+117_1072+121del XP_006715819.1:n.1072+117_1072+121del
XM_006715753.3:c.1216+117_1216+121del XP_006715816.1:n.1216+117_1216+121del
XM_006715754.3:c.1150+117_1150+121del XP_006715817.1:n.1150+117_1150+121del
XM_006715755.3:c.1150+117_1150+121del XP_006715818.1:n.1150+117_1150+121del
XM_006715756.3:c.1072+117_1072+121del XP_006715819.1:n.1072+117_1072+121del
XM_017012439.2:c.1111+117_1111+121del XP_016867928.1:n.1111+117_1111+121del
NM_001031710.3:c.1177+117_1177+121del MANE Select NP_001026880.2:n.1177+117_1177+121del
NM_018846.5:c.1033+117_1033+121del NP_061334.4:n.1033+117_1033+121del
NR_033328.2:n.1550+117_1550+121del