Canonical Allele Identifier: CA2774715073
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23165986_23165987insC , CM000669.2:g.23165986_23165987insC GRCh38
NC_000007.13:g.23205605_23205606insC , CM000669.1:g.23205605_23205606insC GRCh37
NC_000007.12:g.23172130_23172131insC NCBI36
NG_016983.1:g.65253_65254insC
NG_016983.2:g.65253_65254insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000339077.10:c.1177+48_1177+49insC MANE Select ENSP00000343273.4:n.1177+48_1177+49insC
ENST00000339077.9:c.1177+48_1177+49insC ENSP00000343273.4:n.1177+48_1177+49insC
ENST00000409689.5:c.1033+48_1033+49insC ENSP00000386263.1:n.1033+48_1033+49insC
ENST00000469576.1:n.64+48_64+49insC
ENST00000521082.5:c.*1185+48_*1185+49insC ENSP00000430351.1:n.*1185+48_*1185+49insC
NM_001031710.2:c.1177+48_1177+49insC NP_001026880.2:n.1177+48_1177+49insC
NM_018846.4:c.1033+48_1033+49insC NP_061334.4:n.1033+48_1033+49insC
NR_033328.1:n.1601+48_1601+49insC
XM_006715753.1:c.1216+48_1216+49insC XP_006715816.1:n.1216+48_1216+49insC
XM_006715754.1:c.1150+48_1150+49insC XP_006715817.1:n.1150+48_1150+49insC
XM_006715755.1:c.1150+48_1150+49insC XP_006715818.1:n.1150+48_1150+49insC
XM_006715756.1:c.1072+48_1072+49insC XP_006715819.1:n.1072+48_1072+49insC
XM_006715753.3:c.1216+48_1216+49insC XP_006715816.1:n.1216+48_1216+49insC
XM_006715754.3:c.1150+48_1150+49insC XP_006715817.1:n.1150+48_1150+49insC
XM_006715755.3:c.1150+48_1150+49insC XP_006715818.1:n.1150+48_1150+49insC
XM_006715756.3:c.1072+48_1072+49insC XP_006715819.1:n.1072+48_1072+49insC
XM_017012439.2:c.1111+48_1111+49insC XP_016867928.1:n.1111+48_1111+49insC
NM_001031710.3:c.1177+48_1177+49insC MANE Select NP_001026880.2:n.1177+48_1177+49insC
NM_018846.5:c.1033+48_1033+49insC NP_061334.4:n.1033+48_1033+49insC
NR_033328.2:n.1550+48_1550+49insC