Canonical Allele Identifier: CA1081988227

Gene: KLHL3

Linked Data

• gnomAD v3: 5-137639034-TGCTGGCAATGGACGTCCACTGG-T
• gnomAD v4: 5-137639034-TGCTGGCAATGGACGTCCACTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639035_137639056del , CM000667.2:g.137639035_137639056del	GRCh38
NC_000005.9:g.136974724_136974745del , CM000667.1:g.136974724_136974745del	GRCh37
NC_000005.8:g.137002623_137002644del	NCBI36
NG_032569.1:g.102035_102056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1116_1137del MANE Select	ENSP00000312397.4:p.Asp372GlufsTer30
ENST00000309755.8:c.1116_1137del	ENSP00000312397.4:p.Asp372GlufsTer30
ENST00000502381.1:n.703_724del
ENST00000504208.5:c.*335-10619_*335-10598del	ENSP00000423585.1:n.*335-10619_*335-10598del
ENST00000505853.1:c.996_1017del	ENSP00000426173.1:p.Asp332GlufsTer30
ENST00000506491.5:c.870_891del	ENSP00000424828.1:p.Asp290GlufsTer30
ENST00000506873.5:n.741_762del
ENST00000508657.5:c.1020_1041del	ENSP00000422099.1:p.Asp340GlufsTer30
NM_001257194.1:c.1020_1041del	NP_001244123.1:p.Asp340GlufsTer30
NM_001257195.1:c.870_891del	NP_001244124.1:p.Asp290GlufsTer30
NM_017415.2:c.1116_1137del	NP_059111.2:p.Asp372GlufsTer30
NM_017415.3:c.1116_1137del MANE Select	NP_059111.2:p.Asp372GlufsTer30
NM_001257195.2:c.870_891del	NP_001244124.1:p.Asp290GlufsTer30