Canonical Allele Identifier: CA2580076947

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 1341505
• ClinVar RCV Id: RCV002274224
• dbSNP Id: rs2128469474

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165705del , CM000669.2:g.23165705del	GRCh38
NC_000007.13:g.23205324del , CM000669.1:g.23205324del	GRCh37
NC_000007.12:g.23171849del	NCBI36
NG_016983.1:g.64972del
NG_016983.2:g.64972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.944del MANE Select	ENSP00000343273.4:p.Ser315ThrfsTer23
ENST00000339077.9:c.944del	ENSP00000343273.4:p.Ser315ThrfsTer23
ENST00000409689.5:c.800del	ENSP00000386263.1:p.Ser267ThrfsTer23
ENST00000521082.5:c.*952del	ENSP00000430351.1:n.*952del
NM_001031710.2:c.944del	NP_001026880.2:p.Ser315ThrfsTer23
NM_018846.4:c.800del	NP_061334.4:p.Ser267ThrfsTer23
NR_033328.1:n.1368del
XM_006715753.1:c.983del	XP_006715816.1:p.Ser328ThrfsTer23
XM_006715754.1:c.917del	XP_006715817.1:p.Ser306ThrfsTer23
XM_006715755.1:c.917del	XP_006715818.1:p.Ser306ThrfsTer23
XM_006715756.1:c.839del	XP_006715819.1:p.Ser280ThrfsTer23
XM_006715753.3:c.983del	XP_006715816.1:p.Ser328ThrfsTer23
XM_006715754.3:c.917del	XP_006715817.1:p.Ser306ThrfsTer23
XM_006715755.3:c.917del	XP_006715818.1:p.Ser306ThrfsTer23
XM_006715756.3:c.839del	XP_006715819.1:p.Ser280ThrfsTer23
XM_017012439.2:c.878del	XP_016867928.1:p.Ser293ThrfsTer23
NM_001031710.3:c.944del MANE Select	NP_001026880.2:p.Ser315ThrfsTer23
NM_018846.5:c.800del	NP_061334.4:p.Ser267ThrfsTer23
NR_033328.2:n.1317del