Canonical Allele Identifier: CA2682028357

Gene: KLHL7

Linked Data

• gnomAD v4: 7-23165769-TGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165773_23165775del , CM000669.2:g.23165773_23165775del	GRCh38
NC_000007.13:g.23205392_23205394del , CM000669.1:g.23205392_23205394del	GRCh37
NC_000007.12:g.23171917_23171919del	NCBI36
NG_016983.1:g.65040_65042del
NG_016983.2:g.65040_65042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1012_1014del MANE Select	ENSP00000343273.4:p.Val338del
ENST00000339077.9:c.1012_1014del	ENSP00000343273.4:p.Val338del
ENST00000409689.5:c.868_870del	ENSP00000386263.1:p.Val290del
ENST00000521082.5:c.*1020_*1022del	ENSP00000430351.1:n.*1020_*1022del
NM_001031710.2:c.1012_1014del	NP_001026880.2:p.Val338del
NM_018846.4:c.868_870del	NP_061334.4:p.Val290del
NR_033328.1:n.1436_1438del
XM_006715753.1:c.1051_1053del	XP_006715816.1:p.Val351del
XM_006715754.1:c.985_987del	XP_006715817.1:p.Val329del
XM_006715755.1:c.985_987del	XP_006715818.1:p.Val329del
XM_006715756.1:c.907_909del	XP_006715819.1:p.Val303del
XM_006715753.3:c.1051_1053del	XP_006715816.1:p.Val351del
XM_006715754.3:c.985_987del	XP_006715817.1:p.Val329del
XM_006715755.3:c.985_987del	XP_006715818.1:p.Val329del
XM_006715756.3:c.907_909del	XP_006715819.1:p.Val303del
XM_017012439.2:c.946_948del	XP_016867928.1:p.Val316del
NM_001031710.3:c.1012_1014del MANE Select	NP_001026880.2:p.Val338del
NM_018846.5:c.868_870del	NP_061334.4:p.Val290del
NR_033328.2:n.1385_1387del