Canonical Allele Identifier: CA836830222

Gene: KLHL7

Linked Data

• dbSNP Id: rs1289138396
• gnomAD v3: 7-23166039-CT-C
• gnomAD v4: 7-23166039-CT-C
• MyVariant Identifiers: chr7:g.23205659del (hg19) ; chr7:g.23166040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166042del , CM000669.2:g.23166042del	GRCh38
NC_000007.13:g.23205661del , CM000669.1:g.23205661del	GRCh37
NC_000007.12:g.23172186del	NCBI36
NG_016983.1:g.65309del
NG_016983.2:g.65309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+104del MANE Select	ENSP00000343273.4:n.1177+104del
ENST00000339077.9:c.1177+104del	ENSP00000343273.4:n.1177+104del
ENST00000409689.5:c.1033+104del	ENSP00000386263.1:n.1033+104del
ENST00000469576.1:n.64+104del
ENST00000521082.5:c.*1185+104del	ENSP00000430351.1:n.*1185+104del
NM_001031710.2:c.1177+104del	NP_001026880.2:n.1177+104del
NM_018846.4:c.1033+104del	NP_061334.4:n.1033+104del
NR_033328.1:n.1601+104del
XM_006715753.1:c.1216+104del	XP_006715816.1:n.1216+104del
XM_006715754.1:c.1150+104del	XP_006715817.1:n.1150+104del
XM_006715755.1:c.1150+104del	XP_006715818.1:n.1150+104del
XM_006715756.1:c.1072+104del	XP_006715819.1:n.1072+104del
XM_006715753.3:c.1216+104del	XP_006715816.1:n.1216+104del
XM_006715754.3:c.1150+104del	XP_006715817.1:n.1150+104del
XM_006715755.3:c.1150+104del	XP_006715818.1:n.1150+104del
XM_006715756.3:c.1072+104del	XP_006715819.1:n.1072+104del
XM_017012439.2:c.1111+104del	XP_016867928.1:n.1111+104del
NM_001031710.3:c.1177+104del MANE Select	NP_001026880.2:n.1177+104del
NM_018846.5:c.1033+104del	NP_061334.4:n.1033+104del
NR_033328.2:n.1550+104del