Canonical Allele Identifier: CA247564

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 198760
• ClinVar RCV Id: RCV000180199
• dbSNP Id: rs794727909
• MyVariant Identifiers: chr7:g.23205355del (hg19) ; chr7:g.23165736del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165736del , CM000669.2:g.23165736del	GRCh38
NC_000007.13:g.23205355del , CM000669.1:g.23205355del	GRCh37
NC_000007.12:g.23171880del	NCBI36
NG_016983.1:g.65003del
NG_016983.2:g.65003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.975del MANE Select	ENSP00000343273.4:p.Lys325AsnfsTer13
ENST00000339077.9:c.975del	ENSP00000343273.4:p.Lys325AsnfsTer13
ENST00000409689.5:c.831del	ENSP00000386263.1:p.Lys277AsnfsTer13
ENST00000521082.5:c.*983del	ENSP00000430351.1:n.*983del
NM_001031710.2:c.975del	NP_001026880.2:p.Lys325AsnfsTer13
NM_018846.4:c.831del	NP_061334.4:p.Lys277AsnfsTer13
NR_033328.1:n.1399del
XM_006715753.1:c.1014del	XP_006715816.1:p.Lys338AsnfsTer13
XM_006715754.1:c.948del	XP_006715817.1:p.Lys316AsnfsTer13
XM_006715755.1:c.948del	XP_006715818.1:p.Lys316AsnfsTer13
XM_006715756.1:c.870del	XP_006715819.1:p.Lys290AsnfsTer13
XM_006715753.3:c.1014del	XP_006715816.1:p.Lys338AsnfsTer13
XM_006715754.3:c.948del	XP_006715817.1:p.Lys316AsnfsTer13
XM_006715755.3:c.948del	XP_006715818.1:p.Lys316AsnfsTer13
XM_006715756.3:c.870del	XP_006715819.1:p.Lys290AsnfsTer13
XM_017012439.2:c.909del	XP_016867928.1:p.Lys303AsnfsTer13
NM_001031710.3:c.975del MANE Select	NP_001026880.2:p.Lys325AsnfsTer13
NM_018846.5:c.831del	NP_061334.4:p.Lys277AsnfsTer13
NR_033328.2:n.1348del