Canonical Allele Identifier: CA2774715130
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166033_23166035del , CM000669.2:g.23166033_23166035del GRCh38
NC_000007.13:g.23205652_23205654del , CM000669.1:g.23205652_23205654del GRCh37
NC_000007.12:g.23172177_23172179del NCBI36
NG_016983.1:g.65300_65302del
NG_016983.2:g.65300_65302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+95_1177+97del MANE Select ENSP00000343273.4:n.1177+95_1177+97del
ENST00000339077.9:c.1177+95_1177+97del ENSP00000343273.4:n.1177+95_1177+97del
ENST00000409689.5:c.1033+95_1033+97del ENSP00000386263.1:n.1033+95_1033+97del
ENST00000469576.1:n.64+95_64+97del
ENST00000521082.5:c.*1185+95_*1185+97del ENSP00000430351.1:n.*1185+95_*1185+97del
NM_001031710.2:c.1177+95_1177+97del NP_001026880.2:n.1177+95_1177+97del
NM_018846.4:c.1033+95_1033+97del NP_061334.4:n.1033+95_1033+97del
NR_033328.1:n.1601+95_1601+97del
XM_006715753.1:c.1216+95_1216+97del XP_006715816.1:n.1216+95_1216+97del
XM_006715754.1:c.1150+95_1150+97del XP_006715817.1:n.1150+95_1150+97del
XM_006715755.1:c.1150+95_1150+97del XP_006715818.1:n.1150+95_1150+97del
XM_006715756.1:c.1072+95_1072+97del XP_006715819.1:n.1072+95_1072+97del
XM_006715753.3:c.1216+95_1216+97del XP_006715816.1:n.1216+95_1216+97del
XM_006715754.3:c.1150+95_1150+97del XP_006715817.1:n.1150+95_1150+97del
XM_006715755.3:c.1150+95_1150+97del XP_006715818.1:n.1150+95_1150+97del
XM_006715756.3:c.1072+95_1072+97del XP_006715819.1:n.1072+95_1072+97del
XM_017012439.2:c.1111+95_1111+97del XP_016867928.1:n.1111+95_1111+97del
NM_001031710.3:c.1177+95_1177+97del MANE Select NP_001026880.2:n.1177+95_1177+97del
NM_018846.5:c.1033+95_1033+97del NP_061334.4:n.1033+95_1033+97del
NR_033328.2:n.1550+95_1550+97del