Canonical Allele Identifier: CA2774715102
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166006_23166008del , CM000669.2:g.23166006_23166008del GRCh38
NC_000007.13:g.23205625_23205627del , CM000669.1:g.23205625_23205627del GRCh37
NC_000007.12:g.23172150_23172152del NCBI36
NG_016983.1:g.65273_65275del
NG_016983.2:g.65273_65275del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+68_1177+70del MANE Select ENSP00000343273.4:n.1177+68_1177+70del
ENST00000339077.9:c.1177+68_1177+70del ENSP00000343273.4:n.1177+68_1177+70del
ENST00000409689.5:c.1033+68_1033+70del ENSP00000386263.1:n.1033+68_1033+70del
ENST00000469576.1:n.64+68_64+70del
ENST00000521082.5:c.*1185+68_*1185+70del ENSP00000430351.1:n.*1185+68_*1185+70del
NM_001031710.2:c.1177+68_1177+70del NP_001026880.2:n.1177+68_1177+70del
NM_018846.4:c.1033+68_1033+70del NP_061334.4:n.1033+68_1033+70del
NR_033328.1:n.1601+68_1601+70del
XM_006715753.1:c.1216+68_1216+70del XP_006715816.1:n.1216+68_1216+70del
XM_006715754.1:c.1150+68_1150+70del XP_006715817.1:n.1150+68_1150+70del
XM_006715755.1:c.1150+68_1150+70del XP_006715818.1:n.1150+68_1150+70del
XM_006715756.1:c.1072+68_1072+70del XP_006715819.1:n.1072+68_1072+70del
XM_006715753.3:c.1216+68_1216+70del XP_006715816.1:n.1216+68_1216+70del
XM_006715754.3:c.1150+68_1150+70del XP_006715817.1:n.1150+68_1150+70del
XM_006715755.3:c.1150+68_1150+70del XP_006715818.1:n.1150+68_1150+70del
XM_006715756.3:c.1072+68_1072+70del XP_006715819.1:n.1072+68_1072+70del
XM_017012439.2:c.1111+68_1111+70del XP_016867928.1:n.1111+68_1111+70del
NM_001031710.3:c.1177+68_1177+70del MANE Select NP_001026880.2:n.1177+68_1177+70del
NM_018846.5:c.1033+68_1033+70del NP_061334.4:n.1033+68_1033+70del
NR_033328.2:n.1550+68_1550+70del