Canonical Allele Identifier: CA2578846373

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165727-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165730del , CM000669.2:g.23165730del	GRCh38
NC_000007.13:g.23205349del , CM000669.1:g.23205349del	GRCh37
NC_000007.12:g.23171874del	NCBI36
NG_016983.1:g.64997del
NG_016983.2:g.64997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.969del MANE Select	ENSP00000343273.4:p.Phe323LeufsTer15
ENST00000339077.9:c.969del	ENSP00000343273.4:p.Phe323LeufsTer15
ENST00000409689.5:c.825del	ENSP00000386263.1:p.Phe275LeufsTer15
ENST00000521082.5:c.*977del	ENSP00000430351.1:n.*977del
NM_001031710.2:c.969del	NP_001026880.2:p.Phe323LeufsTer15
NM_018846.4:c.825del	NP_061334.4:p.Phe275LeufsTer15
NR_033328.1:n.1393del
XM_006715753.1:c.1008del	XP_006715816.1:p.Phe336LeufsTer15
XM_006715754.1:c.942del	XP_006715817.1:p.Phe314LeufsTer15
XM_006715755.1:c.942del	XP_006715818.1:p.Phe314LeufsTer15
XM_006715756.1:c.864del	XP_006715819.1:p.Phe288LeufsTer15
XM_006715753.3:c.1008del	XP_006715816.1:p.Phe336LeufsTer15
XM_006715754.3:c.942del	XP_006715817.1:p.Phe314LeufsTer15
XM_006715755.3:c.942del	XP_006715818.1:p.Phe314LeufsTer15
XM_006715756.3:c.864del	XP_006715819.1:p.Phe288LeufsTer15
XM_017012439.2:c.903del	XP_016867928.1:p.Phe301LeufsTer15
NM_001031710.3:c.969del MANE Select	NP_001026880.2:p.Phe323LeufsTer15
NM_018846.5:c.825del	NP_061334.4:p.Phe275LeufsTer15
NR_033328.2:n.1342del