Canonical Allele Identifier: CA836830230

Gene: KLHL7

Linked Data

• dbSNP Id: rs1297042266
• gnomAD v3: 7-23166048-TA-T
• gnomAD v4: 7-23166048-TA-T
• MyVariant Identifiers: chr7:g.23205668del (hg19) ; chr7:g.23166049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23166050del , CM000669.2:g.23166050del	GRCh38
NC_000007.13:g.23205669del , CM000669.1:g.23205669del	GRCh37
NC_000007.12:g.23172194del	NCBI36
NG_016983.1:g.65317del
NG_016983.2:g.65317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339077.10:c.1177+112del MANE Select	ENSP00000343273.4:n.1177+112del
ENST00000339077.9:c.1177+112del	ENSP00000343273.4:n.1177+112del
ENST00000409689.5:c.1033+112del	ENSP00000386263.1:n.1033+112del
ENST00000469576.1:n.64+112del
ENST00000521082.5:c.*1185+112del	ENSP00000430351.1:n.*1185+112del
NM_001031710.2:c.1177+112del	NP_001026880.2:n.1177+112del
NM_018846.4:c.1033+112del	NP_061334.4:n.1033+112del
NR_033328.1:n.1601+112del
XM_006715753.1:c.1216+112del	XP_006715816.1:n.1216+112del
XM_006715754.1:c.1150+112del	XP_006715817.1:n.1150+112del
XM_006715755.1:c.1150+112del	XP_006715818.1:n.1150+112del
XM_006715756.1:c.1072+112del	XP_006715819.1:n.1072+112del
XM_006715753.3:c.1216+112del	XP_006715816.1:n.1216+112del
XM_006715754.3:c.1150+112del	XP_006715817.1:n.1150+112del
XM_006715755.3:c.1150+112del	XP_006715818.1:n.1150+112del
XM_006715756.3:c.1072+112del	XP_006715819.1:n.1072+112del
XM_017012439.2:c.1111+112del	XP_016867928.1:n.1111+112del
NM_001031710.3:c.1177+112del MANE Select	NP_001026880.2:n.1177+112del
NM_018846.5:c.1033+112del	NP_061334.4:n.1033+112del
NR_033328.2:n.1550+112del