Canonical Allele Identifier: CA2774715084
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165996_23165999del , CM000669.2:g.23165996_23165999del GRCh38
NC_000007.13:g.23205615_23205618del , CM000669.1:g.23205615_23205618del GRCh37
NC_000007.12:g.23172140_23172143del NCBI36
NG_016983.1:g.65263_65266del
NG_016983.2:g.65263_65266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+58_1177+61del MANE Select ENSP00000343273.4:n.1177+58_1177+61del
ENST00000339077.9:c.1177+58_1177+61del ENSP00000343273.4:n.1177+58_1177+61del
ENST00000409689.5:c.1033+58_1033+61del ENSP00000386263.1:n.1033+58_1033+61del
ENST00000469576.1:n.64+58_64+61del
ENST00000521082.5:c.*1185+58_*1185+61del ENSP00000430351.1:n.*1185+58_*1185+61del
NM_001031710.2:c.1177+58_1177+61del NP_001026880.2:n.1177+58_1177+61del
NM_018846.4:c.1033+58_1033+61del NP_061334.4:n.1033+58_1033+61del
NR_033328.1:n.1601+58_1601+61del
XM_006715753.1:c.1216+58_1216+61del XP_006715816.1:n.1216+58_1216+61del
XM_006715754.1:c.1150+58_1150+61del XP_006715817.1:n.1150+58_1150+61del
XM_006715755.1:c.1150+58_1150+61del XP_006715818.1:n.1150+58_1150+61del
XM_006715756.1:c.1072+58_1072+61del XP_006715819.1:n.1072+58_1072+61del
XM_006715753.3:c.1216+58_1216+61del XP_006715816.1:n.1216+58_1216+61del
XM_006715754.3:c.1150+58_1150+61del XP_006715817.1:n.1150+58_1150+61del
XM_006715755.3:c.1150+58_1150+61del XP_006715818.1:n.1150+58_1150+61del
XM_006715756.3:c.1072+58_1072+61del XP_006715819.1:n.1072+58_1072+61del
XM_017012439.2:c.1111+58_1111+61del XP_016867928.1:n.1111+58_1111+61del
NM_001031710.3:c.1177+58_1177+61del MANE Select NP_001026880.2:n.1177+58_1177+61del
NM_018846.5:c.1033+58_1033+61del NP_061334.4:n.1033+58_1033+61del
NR_033328.2:n.1550+58_1550+61del