Canonical Allele Identifier: CA2774715156
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166066_23166068del , CM000669.2:g.23166066_23166068del GRCh38
NC_000007.13:g.23205685_23205687del , CM000669.1:g.23205685_23205687del GRCh37
NC_000007.12:g.23172210_23172212del NCBI36
NG_016983.1:g.65333_65335del
NG_016983.2:g.65333_65335del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+128_1177+130del MANE Select ENSP00000343273.4:n.1177+128_1177+130del
ENST00000339077.9:c.1177+128_1177+130del ENSP00000343273.4:n.1177+128_1177+130del
ENST00000409689.5:c.1033+128_1033+130del ENSP00000386263.1:n.1033+128_1033+130del
ENST00000469576.1:n.64+128_64+130del
ENST00000521082.5:c.*1185+128_*1185+130del ENSP00000430351.1:n.*1185+128_*1185+130del
NM_001031710.2:c.1177+128_1177+130del NP_001026880.2:n.1177+128_1177+130del
NM_018846.4:c.1033+128_1033+130del NP_061334.4:n.1033+128_1033+130del
NR_033328.1:n.1601+128_1601+130del
XM_006715753.1:c.1216+128_1216+130del XP_006715816.1:n.1216+128_1216+130del
XM_006715754.1:c.1150+128_1150+130del XP_006715817.1:n.1150+128_1150+130del
XM_006715755.1:c.1150+128_1150+130del XP_006715818.1:n.1150+128_1150+130del
XM_006715756.1:c.1072+128_1072+130del XP_006715819.1:n.1072+128_1072+130del
XM_006715753.3:c.1216+128_1216+130del XP_006715816.1:n.1216+128_1216+130del
XM_006715754.3:c.1150+128_1150+130del XP_006715817.1:n.1150+128_1150+130del
XM_006715755.3:c.1150+128_1150+130del XP_006715818.1:n.1150+128_1150+130del
XM_006715756.3:c.1072+128_1072+130del XP_006715819.1:n.1072+128_1072+130del
XM_017012439.2:c.1111+128_1111+130del XP_016867928.1:n.1111+128_1111+130del
NM_001031710.3:c.1177+128_1177+130del MANE Select NP_001026880.2:n.1177+128_1177+130del
NM_018846.5:c.1033+128_1033+130del NP_061334.4:n.1033+128_1033+130del
NR_033328.2:n.1550+128_1550+130del