Canonical Allele Identifier: CA446561148

Gene: KLHL3

Linked Data

• dbSNP Id: rs1313544680
• MyVariant Identifiers: chr5:g.136974811_136974820del (hg19) ; chr5:g.137639122_137639131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639122_137639131del , CM000667.2:g.137639122_137639131del	GRCh38
NC_000005.9:g.136974811_136974820del , CM000667.1:g.136974811_136974820del	GRCh37
NC_000005.8:g.137002710_137002719del	NCBI36
NG_032569.1:g.101960_101969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1041_1050del MANE Select	ENSP00000312397.4:p.His348ProfsTer20
ENST00000309755.8:c.1041_1050del	ENSP00000312397.4:p.His348ProfsTer20
ENST00000502381.1:n.628_637del
ENST00000504208.5:c.*335-10694_*335-10685del	ENSP00000423585.1:n.*335-10694_*335-10685del
ENST00000505853.1:c.921_930del	ENSP00000426173.1:p.His308ProfsTer20
ENST00000506491.5:c.795_804del	ENSP00000424828.1:p.His266ProfsTer20
ENST00000506873.5:n.666_675del
ENST00000508657.5:c.945_954del	ENSP00000422099.1:p.His316ProfsTer20
NM_001257194.1:c.945_954del	NP_001244123.1:p.His316ProfsTer20
NM_001257195.1:c.795_804del	NP_001244124.1:p.His266ProfsTer20
NM_017415.2:c.1041_1050del	NP_059111.2:p.His348ProfsTer20
NM_017415.3:c.1041_1050del MANE Select	NP_059111.2:p.His348ProfsTer20
NM_001257195.2:c.795_804del	NP_001244124.1:p.His266ProfsTer20