Canonical Allele Identifier: CA2774715112
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23166017_23166018insAGT , CM000669.2:g.23166017_23166018insAGT GRCh38
NC_000007.13:g.23205636_23205637insAGT , CM000669.1:g.23205636_23205637insAGT GRCh37
NC_000007.12:g.23172161_23172162insAGT NCBI36
NG_016983.1:g.65284_65285insAGT
NG_016983.2:g.65284_65285insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+79_1177+80insAGT MANE Select ENSP00000343273.4:n.1177+79_1177+80insAGT
ENST00000339077.9:c.1177+79_1177+80insAGT ENSP00000343273.4:n.1177+79_1177+80insAGT
ENST00000409689.5:c.1033+79_1033+80insAGT ENSP00000386263.1:n.1033+79_1033+80insAGT
ENST00000469576.1:n.64+79_64+80insAGT
ENST00000521082.5:c.*1185+79_*1185+80insAGT ENSP00000430351.1:n.*1185+79_*1185+80insAGT
NM_001031710.2:c.1177+79_1177+80insAGT NP_001026880.2:n.1177+79_1177+80insAGT
NM_018846.4:c.1033+79_1033+80insAGT NP_061334.4:n.1033+79_1033+80insAGT
NR_033328.1:n.1601+79_1601+80insAGT
XM_006715753.1:c.1216+79_1216+80insAGT XP_006715816.1:n.1216+79_1216+80insAGT
XM_006715754.1:c.1150+79_1150+80insAGT XP_006715817.1:n.1150+79_1150+80insAGT
XM_006715755.1:c.1150+79_1150+80insAGT XP_006715818.1:n.1150+79_1150+80insAGT
XM_006715756.1:c.1072+79_1072+80insAGT XP_006715819.1:n.1072+79_1072+80insAGT
XM_006715753.3:c.1216+79_1216+80insAGT XP_006715816.1:n.1216+79_1216+80insAGT
XM_006715754.3:c.1150+79_1150+80insAGT XP_006715817.1:n.1150+79_1150+80insAGT
XM_006715755.3:c.1150+79_1150+80insAGT XP_006715818.1:n.1150+79_1150+80insAGT
XM_006715756.3:c.1072+79_1072+80insAGT XP_006715819.1:n.1072+79_1072+80insAGT
XM_017012439.2:c.1111+79_1111+80insAGT XP_016867928.1:n.1111+79_1111+80insAGT
NM_001031710.3:c.1177+79_1177+80insAGT MANE Select NP_001026880.2:n.1177+79_1177+80insAGT
NM_018846.5:c.1033+79_1033+80insAGT NP_061334.4:n.1033+79_1033+80insAGT
NR_033328.2:n.1550+79_1550+80insAGT