Canonical Allele Identifier: CA2774715140
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166046_23166049del , CM000669.2:g.23166046_23166049del GRCh38
NC_000007.13:g.23205665_23205668del , CM000669.1:g.23205665_23205668del GRCh37
NC_000007.12:g.23172190_23172193del NCBI36
NG_016983.1:g.65313_65316del
NG_016983.2:g.65313_65316del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+108_1177+111del MANE Select ENSP00000343273.4:n.1177+108_1177+111del
ENST00000339077.9:c.1177+108_1177+111del ENSP00000343273.4:n.1177+108_1177+111del
ENST00000409689.5:c.1033+108_1033+111del ENSP00000386263.1:n.1033+108_1033+111del
ENST00000469576.1:n.64+108_64+111del
ENST00000521082.5:c.*1185+108_*1185+111del ENSP00000430351.1:n.*1185+108_*1185+111del
NM_001031710.2:c.1177+108_1177+111del NP_001026880.2:n.1177+108_1177+111del
NM_018846.4:c.1033+108_1033+111del NP_061334.4:n.1033+108_1033+111del
NR_033328.1:n.1601+108_1601+111del
XM_006715753.1:c.1216+108_1216+111del XP_006715816.1:n.1216+108_1216+111del
XM_006715754.1:c.1150+108_1150+111del XP_006715817.1:n.1150+108_1150+111del
XM_006715755.1:c.1150+108_1150+111del XP_006715818.1:n.1150+108_1150+111del
XM_006715756.1:c.1072+108_1072+111del XP_006715819.1:n.1072+108_1072+111del
XM_006715753.3:c.1216+108_1216+111del XP_006715816.1:n.1216+108_1216+111del
XM_006715754.3:c.1150+108_1150+111del XP_006715817.1:n.1150+108_1150+111del
XM_006715755.3:c.1150+108_1150+111del XP_006715818.1:n.1150+108_1150+111del
XM_006715756.3:c.1072+108_1072+111del XP_006715819.1:n.1072+108_1072+111del
XM_017012439.2:c.1111+108_1111+111del XP_016867928.1:n.1111+108_1111+111del
NM_001031710.3:c.1177+108_1177+111del MANE Select NP_001026880.2:n.1177+108_1177+111del
NM_018846.5:c.1033+108_1033+111del NP_061334.4:n.1033+108_1033+111del
NR_033328.2:n.1550+108_1550+111del