Canonical Allele Identifier: CA2774715114
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166019_23166022del , CM000669.2:g.23166019_23166022del GRCh38
NC_000007.13:g.23205638_23205641del , CM000669.1:g.23205638_23205641del GRCh37
NC_000007.12:g.23172163_23172166del NCBI36
NG_016983.1:g.65286_65289del
NG_016983.2:g.65286_65289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+81_1177+84del MANE Select ENSP00000343273.4:n.1177+81_1177+84del
ENST00000339077.9:c.1177+81_1177+84del ENSP00000343273.4:n.1177+81_1177+84del
ENST00000409689.5:c.1033+81_1033+84del ENSP00000386263.1:n.1033+81_1033+84del
ENST00000469576.1:n.64+81_64+84del
ENST00000521082.5:c.*1185+81_*1185+84del ENSP00000430351.1:n.*1185+81_*1185+84del
NM_001031710.2:c.1177+81_1177+84del NP_001026880.2:n.1177+81_1177+84del
NM_018846.4:c.1033+81_1033+84del NP_061334.4:n.1033+81_1033+84del
NR_033328.1:n.1601+81_1601+84del
XM_006715753.1:c.1216+81_1216+84del XP_006715816.1:n.1216+81_1216+84del
XM_006715754.1:c.1150+81_1150+84del XP_006715817.1:n.1150+81_1150+84del
XM_006715755.1:c.1150+81_1150+84del XP_006715818.1:n.1150+81_1150+84del
XM_006715756.1:c.1072+81_1072+84del XP_006715819.1:n.1072+81_1072+84del
XM_006715753.3:c.1216+81_1216+84del XP_006715816.1:n.1216+81_1216+84del
XM_006715754.3:c.1150+81_1150+84del XP_006715817.1:n.1150+81_1150+84del
XM_006715755.3:c.1150+81_1150+84del XP_006715818.1:n.1150+81_1150+84del
XM_006715756.3:c.1072+81_1072+84del XP_006715819.1:n.1072+81_1072+84del
XM_017012439.2:c.1111+81_1111+84del XP_016867928.1:n.1111+81_1111+84del
NM_001031710.3:c.1177+81_1177+84del MANE Select NP_001026880.2:n.1177+81_1177+84del
NM_018846.5:c.1033+81_1033+84del NP_061334.4:n.1033+81_1033+84del
NR_033328.2:n.1550+81_1550+84del