Canonical Allele Identifier: CA573380344

Gene: KLHL7

Linked Data

• dbSNP Id: rs1222134847
• gnomAD v2: 7-23205378-TTTGGGACAATGTAGTA-T
• MyVariant Identifiers: chr7:g.23205379_23205394del (hg19) ; chr7:g.23165760_23165775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165761_23165776del , CM000669.2:g.23165761_23165776del	GRCh38
NC_000007.13:g.23205380_23205395del , CM000669.1:g.23205380_23205395del	GRCh37
NC_000007.12:g.23171905_23171920del	NCBI36
NG_016983.1:g.65028_65043del
NG_016983.2:g.65028_65043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1000_1015del MANE Select	ENSP00000343273.4:p.Trp334ThrfsTer11
ENST00000339077.9:c.1000_1015del	ENSP00000343273.4:p.Trp334ThrfsTer11
ENST00000409689.5:c.856_871del	ENSP00000386263.1:p.Trp286ThrfsTer11
ENST00000521082.5:c.*1008_*1023del	ENSP00000430351.1:n.*1008_*1023del
NM_001031710.2:c.1000_1015del	NP_001026880.2:p.Trp334ThrfsTer11
NM_018846.4:c.856_871del	NP_061334.4:p.Trp286ThrfsTer11
NR_033328.1:n.1424_1439del
XM_006715753.1:c.1039_1054del	XP_006715816.1:p.Trp347ThrfsTer11
XM_006715754.1:c.973_988del	XP_006715817.1:p.Trp325ThrfsTer11
XM_006715755.1:c.973_988del	XP_006715818.1:p.Trp325ThrfsTer11
XM_006715756.1:c.895_910del	XP_006715819.1:p.Trp299ThrfsTer11
XM_006715753.3:c.1039_1054del	XP_006715816.1:p.Trp347ThrfsTer11
XM_006715754.3:c.973_988del	XP_006715817.1:p.Trp325ThrfsTer11
XM_006715755.3:c.973_988del	XP_006715818.1:p.Trp325ThrfsTer11
XM_006715756.3:c.895_910del	XP_006715819.1:p.Trp299ThrfsTer11
XM_017012439.2:c.934_949del	XP_016867928.1:p.Trp312ThrfsTer11
NM_001031710.3:c.1000_1015del MANE Select	NP_001026880.2:p.Trp334ThrfsTer11
NM_018846.5:c.856_871del	NP_061334.4:p.Trp286ThrfsTer11
NR_033328.2:n.1373_1388del