Canonical Allele Identifier: CA1081988592

Gene: KLHL3

Linked Data

• dbSNP Id: rs1750858628
• gnomAD v3: 5-137639621-GAGGC-G
• gnomAD v4: 5-137639621-GAGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639624_137639627del , CM000667.2:g.137639624_137639627del	GRCh38
NC_000005.9:g.136975313_136975316del , CM000667.1:g.136975313_136975316del	GRCh37
NC_000005.8:g.137003212_137003215del	NCBI36
NG_032569.1:g.101466_101469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+235_1021+238del MANE Select	ENSP00000312397.4:n.1021+235_1021+238del
ENST00000309755.8:c.1021+235_1021+238del	ENSP00000312397.4:n.1021+235_1021+238del
ENST00000502381.1:n.608+235_608+238del
ENST00000504208.5:c.*335-11188_*335-11185del	ENSP00000423585.1:n.*335-11188_*335-11185del
ENST00000505853.1:c.901+235_901+238del	ENSP00000426173.1:n.901+235_901+238del
ENST00000506491.5:c.775+235_775+238del	ENSP00000424828.1:n.775+235_775+238del
ENST00000506873.5:n.646+235_646+238del
ENST00000508657.5:c.925+235_925+238del	ENSP00000422099.1:n.925+235_925+238del
NM_001257194.1:c.925+235_925+238del	NP_001244123.1:n.925+235_925+238del
NM_001257195.1:c.775+235_775+238del	NP_001244124.1:n.775+235_775+238del
NM_017415.2:c.1021+235_1021+238del	NP_059111.2:n.1021+235_1021+238del
NM_017415.3:c.1021+235_1021+238del MANE Select	NP_059111.2:n.1021+235_1021+238del
NM_001257195.2:c.775+235_775+238del	NP_001244124.1:n.775+235_775+238del