Canonical Allele Identifier: CA2682028371

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165997-CTTTCATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166001_23166007del , CM000669.2:g.23166001_23166007del	GRCh38
NC_000007.13:g.23205620_23205626del , CM000669.1:g.23205620_23205626del	GRCh37
NC_000007.12:g.23172145_23172151del	NCBI36
NG_016983.1:g.65268_65274del
NG_016983.2:g.65268_65274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+63_1177+69del MANE Select	ENSP00000343273.4:n.1177+63_1177+69del
ENST00000339077.9:c.1177+63_1177+69del	ENSP00000343273.4:n.1177+63_1177+69del
ENST00000409689.5:c.1033+63_1033+69del	ENSP00000386263.1:n.1033+63_1033+69del
ENST00000469576.1:n.64+63_64+69del
ENST00000521082.5:c.*1185+63_*1185+69del	ENSP00000430351.1:n.*1185+63_*1185+69del
NM_001031710.2:c.1177+63_1177+69del	NP_001026880.2:n.1177+63_1177+69del
NM_018846.4:c.1033+63_1033+69del	NP_061334.4:n.1033+63_1033+69del
NR_033328.1:n.1601+63_1601+69del
XM_006715753.1:c.1216+63_1216+69del	XP_006715816.1:n.1216+63_1216+69del
XM_006715754.1:c.1150+63_1150+69del	XP_006715817.1:n.1150+63_1150+69del
XM_006715755.1:c.1150+63_1150+69del	XP_006715818.1:n.1150+63_1150+69del
XM_006715756.1:c.1072+63_1072+69del	XP_006715819.1:n.1072+63_1072+69del
XM_006715753.3:c.1216+63_1216+69del	XP_006715816.1:n.1216+63_1216+69del
XM_006715754.3:c.1150+63_1150+69del	XP_006715817.1:n.1150+63_1150+69del
XM_006715755.3:c.1150+63_1150+69del	XP_006715818.1:n.1150+63_1150+69del
XM_006715756.3:c.1072+63_1072+69del	XP_006715819.1:n.1072+63_1072+69del
XM_017012439.2:c.1111+63_1111+69del	XP_016867928.1:n.1111+63_1111+69del
NM_001031710.3:c.1177+63_1177+69del MANE Select	NP_001026880.2:n.1177+63_1177+69del
NM_018846.5:c.1033+63_1033+69del	NP_061334.4:n.1033+63_1033+69del
NR_033328.2:n.1550+63_1550+69del