Canonical Allele Identifier: CA4186523

Gene: KLHL7

Linked Data

• dbSNP Id: rs753479414
• ExAC: 7:23205274 A / AT
• gnomAD v2: 7-23205274-A-AT
• gnomAD v4: 7-23165655-A-AT
• MyVariant Identifiers: chr7:g.23205274_23205275insT (hg19) ; chr7:g.23165655_23165656insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23165662dup , CM000669.2:g.23165662dup	GRCh38
NC_000007.13:g.23205281dup , CM000669.1:g.23205281dup	GRCh37
NC_000007.12:g.23171806dup	NCBI36
NG_016983.1:g.64929dup
NG_016983.2:g.64929dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.937-36dup MANE Select	ENSP00000343273.4:n.937-36dup
ENST00000339077.9:c.937-36dup	ENSP00000343273.4:n.937-36dup
ENST00000409689.5:c.793-36dup	ENSP00000386263.1:n.793-36dup
ENST00000521082.5:c.*945-36dup	ENSP00000430351.1:n.*945-36dup
NM_001031710.2:c.937-36dup	NP_001026880.2:n.937-36dup
NM_018846.4:c.793-36dup	NP_061334.4:n.793-36dup
NR_033328.1:n.1361-36dup
XM_006715753.1:c.976-36dup	XP_006715816.1:n.976-36dup
XM_006715754.1:c.910-36dup	XP_006715817.1:n.910-36dup
XM_006715755.1:c.910-36dup	XP_006715818.1:n.910-36dup
XM_006715756.1:c.832-36dup	XP_006715819.1:n.832-36dup
XM_006715753.3:c.976-36dup	XP_006715816.1:n.976-36dup
XM_006715754.3:c.910-36dup	XP_006715817.1:n.910-36dup
XM_006715755.3:c.910-36dup	XP_006715818.1:n.910-36dup
XM_006715756.3:c.832-36dup	XP_006715819.1:n.832-36dup
XM_017012439.2:c.871-36dup	XP_016867928.1:n.871-36dup
NM_001031710.3:c.937-36dup MANE Select	NP_001026880.2:n.937-36dup
NM_018846.5:c.793-36dup	NP_061334.4:n.793-36dup
NR_033328.2:n.1310-36dup