Canonical Allele Identifier: CA563250450

Gene: KLHL3

Linked Data

• dbSNP Id: rs1344288389
• gnomAD v2: 5-136975228-CA-C
• gnomAD v3: 5-137639539-CA-C
• gnomAD v4: 5-137639539-CA-C
• MyVariant Identifiers: chr5:g.136975229del (hg19) ; chr5:g.137639540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639544del , CM000667.2:g.137639544del	GRCh38
NC_000005.9:g.136975233del , CM000667.1:g.136975233del	GRCh37
NC_000005.8:g.137003132del	NCBI36
NG_032569.1:g.101551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+320del MANE Select	ENSP00000312397.4:n.1021+320del
ENST00000309755.8:c.1021+320del	ENSP00000312397.4:n.1021+320del
ENST00000502381.1:n.608+320del
ENST00000504208.5:c.*335-11103del	ENSP00000423585.1:n.*335-11103del
ENST00000505853.1:c.901+320del	ENSP00000426173.1:n.901+320del
ENST00000506491.5:c.775+320del	ENSP00000424828.1:n.775+320del
ENST00000506873.5:n.646+320del
ENST00000508657.5:c.925+320del	ENSP00000422099.1:n.925+320del
NM_001257194.1:c.925+320del	NP_001244123.1:n.925+320del
NM_001257195.1:c.775+320del	NP_001244124.1:n.775+320del
NM_017415.2:c.1021+320del	NP_059111.2:n.1021+320del
NM_017415.3:c.1021+320del MANE Select	NP_059111.2:n.1021+320del
NM_001257195.2:c.775+320del	NP_001244124.1:n.775+320del