Canonical Allele Identifier: CA2675417612

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639116-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639117dup , CM000667.2:g.137639117dup	GRCh38
NC_000005.9:g.136974806dup , CM000667.1:g.136974806dup	GRCh37
NC_000005.8:g.137002705dup	NCBI36
NG_032569.1:g.101974dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1055dup MANE Select	ENSP00000312397.4:p.Gly354ArgfsTer3
ENST00000309755.8:c.1055dup	ENSP00000312397.4:p.Gly354ArgfsTer3
ENST00000502381.1:n.642dup
ENST00000504208.5:c.*335-10680dup	ENSP00000423585.1:n.*335-10680dup
ENST00000505853.1:c.935dup	ENSP00000426173.1:p.Gly314ArgfsTer3
ENST00000506491.5:c.809dup	ENSP00000424828.1:p.Gly272ArgfsTer3
ENST00000506873.5:n.680dup
ENST00000508657.5:c.959dup	ENSP00000422099.1:p.Gly322ArgfsTer3
NM_001257194.1:c.959dup	NP_001244123.1:p.Gly322ArgfsTer3
NM_001257195.1:c.809dup	NP_001244124.1:p.Gly272ArgfsTer3
NM_017415.2:c.1055dup	NP_059111.2:p.Gly354ArgfsTer3
NM_017415.3:c.1055dup MANE Select	NP_059111.2:p.Gly354ArgfsTer3
NM_001257195.2:c.809dup	NP_001244124.1:p.Gly272ArgfsTer3