Canonical Allele Identifier: CA361048398

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.137639123_137639132del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639123_137639132del , CM000667.2:g.137639123_137639132del	GRCh38
NC_000005.9:g.136974812_136974821del , CM000667.1:g.136974812_136974821del	GRCh37
NC_000005.8:g.137002711_137002720del	NCBI36
NG_032569.1:g.101959_101968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1040_1049del MANE Select	ENSP00000312397.4:p.Gly347ValfsTer21
ENST00000309755.8:c.1040_1049del	ENSP00000312397.4:p.Gly347ValfsTer21
ENST00000502381.1:n.627_636del
ENST00000504208.5:c.*335-10695_*335-10686del	ENSP00000423585.1:n.*335-10695_*335-10686del
ENST00000505853.1:c.920_929del	ENSP00000426173.1:p.Gly307ValfsTer21
ENST00000506491.5:c.794_803del	ENSP00000424828.1:p.Gly265ValfsTer21
ENST00000506873.5:n.665_674del
ENST00000508657.5:c.944_953del	ENSP00000422099.1:p.Gly315ValfsTer21
NM_001257194.1:c.944_953del	NP_001244123.1:p.Gly315ValfsTer21
NM_001257195.1:c.794_803del	NP_001244124.1:p.Gly265ValfsTer21
NM_017415.2:c.1040_1049del	NP_059111.2:p.Gly347ValfsTer21
NM_017415.3:c.1040_1049del MANE Select	NP_059111.2:p.Gly347ValfsTer21
NM_001257195.2:c.794_803del	NP_001244124.1:p.Gly265ValfsTer21