Canonical Allele Identifier: CA2580076949

Gene: KLHL7

Linked Data

• ClinVar Variation Id: 2101759
• ClinVar RCV Id: RCV003017070

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165858_23165859del , CM000669.2:g.23165858_23165859del	GRCh38
NC_000007.13:g.23205477_23205478del , CM000669.1:g.23205477_23205478del	GRCh37
NC_000007.12:g.23172002_23172003del	NCBI36
NG_016983.1:g.65125_65126del
NG_016983.2:g.65125_65126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1097_1098del MANE Select	ENSP00000343273.4:p.Leu366ArgfsTer?
ENST00000339077.9:c.1097_1098del	ENSP00000343273.4:p.Leu366ArgfsTer?
ENST00000409689.5:c.953_954del	ENSP00000386263.1:p.Leu318ArgfsTer?
ENST00000521082.5:c.*1105_*1106del	ENSP00000430351.1:n.*1105_*1106del
NM_001031710.2:c.1097_1098del	NP_001026880.2:p.Leu366ArgfsTer?
NM_018846.4:c.953_954del	NP_061334.4:p.Leu318ArgfsTer?
NR_033328.1:n.1521_1522del
XM_006715753.1:c.1136_1137del	XP_006715816.1:p.Leu379ArgfsTer?
XM_006715754.1:c.1070_1071del	XP_006715817.1:p.Leu357ArgfsTer?
XM_006715755.1:c.1070_1071del	XP_006715818.1:p.Leu357ArgfsTer?
XM_006715756.1:c.992_993del	XP_006715819.1:p.Leu331ArgfsTer?
XM_006715753.3:c.1136_1137del	XP_006715816.1:p.Leu379ArgfsTer?
XM_006715754.3:c.1070_1071del	XP_006715817.1:p.Leu357ArgfsTer?
XM_006715755.3:c.1070_1071del	XP_006715818.1:p.Leu357ArgfsTer?
XM_006715756.3:c.992_993del	XP_006715819.1:p.Leu331ArgfsTer?
XM_017012439.2:c.1031_1032del	XP_016867928.1:p.Leu344ArgfsTer?
NM_001031710.3:c.1097_1098del MANE Select	NP_001026880.2:p.Leu366ArgfsTer?
NM_018846.5:c.953_954del	NP_061334.4:p.Leu318ArgfsTer?
NR_033328.2:n.1470_1471del