Canonical Allele Identifier: CA836830207

Gene: KLHL7

Linked Data

• dbSNP Id: rs1490740381
• gnomAD v3: 7-23166023-ATTAT-A
• gnomAD v4: 7-23166023-ATTAT-A
• MyVariant Identifiers: chr7:g.23205643_23205646del (hg19) ; chr7:g.23166024_23166027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166026_23166029del , CM000669.2:g.23166026_23166029del	GRCh38
NC_000007.13:g.23205645_23205648del , CM000669.1:g.23205645_23205648del	GRCh37
NC_000007.12:g.23172170_23172173del	NCBI36
NG_016983.1:g.65293_65296del
NG_016983.2:g.65293_65296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+88_1177+91del MANE Select	ENSP00000343273.4:n.1177+88_1177+91del
ENST00000339077.9:c.1177+88_1177+91del	ENSP00000343273.4:n.1177+88_1177+91del
ENST00000409689.5:c.1033+88_1033+91del	ENSP00000386263.1:n.1033+88_1033+91del
ENST00000469576.1:n.64+88_64+91del
ENST00000521082.5:c.*1185+88_*1185+91del	ENSP00000430351.1:n.*1185+88_*1185+91del
NM_001031710.2:c.1177+88_1177+91del	NP_001026880.2:n.1177+88_1177+91del
NM_018846.4:c.1033+88_1033+91del	NP_061334.4:n.1033+88_1033+91del
NR_033328.1:n.1601+88_1601+91del
XM_006715753.1:c.1216+88_1216+91del	XP_006715816.1:n.1216+88_1216+91del
XM_006715754.1:c.1150+88_1150+91del	XP_006715817.1:n.1150+88_1150+91del
XM_006715755.1:c.1150+88_1150+91del	XP_006715818.1:n.1150+88_1150+91del
XM_006715756.1:c.1072+88_1072+91del	XP_006715819.1:n.1072+88_1072+91del
XM_006715753.3:c.1216+88_1216+91del	XP_006715816.1:n.1216+88_1216+91del
XM_006715754.3:c.1150+88_1150+91del	XP_006715817.1:n.1150+88_1150+91del
XM_006715755.3:c.1150+88_1150+91del	XP_006715818.1:n.1150+88_1150+91del
XM_006715756.3:c.1072+88_1072+91del	XP_006715819.1:n.1072+88_1072+91del
XM_017012439.2:c.1111+88_1111+91del	XP_016867928.1:n.1111+88_1111+91del
NM_001031710.3:c.1177+88_1177+91del MANE Select	NP_001026880.2:n.1177+88_1177+91del
NM_018846.5:c.1033+88_1033+91del	NP_061334.4:n.1033+88_1033+91del
NR_033328.2:n.1550+88_1550+91del