Canonical Allele Identifier: CA2682028374

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23166013-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166013_23166014insT , CM000669.2:g.23166013_23166014insT	GRCh38
NC_000007.13:g.23205632_23205633insT , CM000669.1:g.23205632_23205633insT	GRCh37
NC_000007.12:g.23172157_23172158insT	NCBI36
NG_016983.1:g.65280_65281insT
NG_016983.2:g.65280_65281insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+75_1177+76insT MANE Select	ENSP00000343273.4:n.1177+75_1177+76insT
ENST00000339077.9:c.1177+75_1177+76insT	ENSP00000343273.4:n.1177+75_1177+76insT
ENST00000409689.5:c.1033+75_1033+76insT	ENSP00000386263.1:n.1033+75_1033+76insT
ENST00000469576.1:n.64+75_64+76insT
ENST00000521082.5:c.*1185+75_*1185+76insT	ENSP00000430351.1:n.*1185+75_*1185+76insT
NM_001031710.2:c.1177+75_1177+76insT	NP_001026880.2:n.1177+75_1177+76insT
NM_018846.4:c.1033+75_1033+76insT	NP_061334.4:n.1033+75_1033+76insT
NR_033328.1:n.1601+75_1601+76insT
XM_006715753.1:c.1216+75_1216+76insT	XP_006715816.1:n.1216+75_1216+76insT
XM_006715754.1:c.1150+75_1150+76insT	XP_006715817.1:n.1150+75_1150+76insT
XM_006715755.1:c.1150+75_1150+76insT	XP_006715818.1:n.1150+75_1150+76insT
XM_006715756.1:c.1072+75_1072+76insT	XP_006715819.1:n.1072+75_1072+76insT
XM_006715753.3:c.1216+75_1216+76insT	XP_006715816.1:n.1216+75_1216+76insT
XM_006715754.3:c.1150+75_1150+76insT	XP_006715817.1:n.1150+75_1150+76insT
XM_006715755.3:c.1150+75_1150+76insT	XP_006715818.1:n.1150+75_1150+76insT
XM_006715756.3:c.1072+75_1072+76insT	XP_006715819.1:n.1072+75_1072+76insT
XM_017012439.2:c.1111+75_1111+76insT	XP_016867928.1:n.1111+75_1111+76insT
NM_001031710.3:c.1177+75_1177+76insT MANE Select	NP_001026880.2:n.1177+75_1177+76insT
NM_018846.5:c.1033+75_1033+76insT	NP_061334.4:n.1033+75_1033+76insT
NR_033328.2:n.1550+75_1550+76insT