Canonical Allele Identifier: CA3422269

Gene: KLHL3

Linked Data

• dbSNP Id: rs750131849
• ExAC: 5:136974614 AG / A
• gnomAD v2: 5-136974614-AG-A
• gnomAD v4: 5-137638925-AG-A
• MyVariant Identifiers: chr5:g.136974615del (hg19) ; chr5:g.137638926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638929del , CM000667.2:g.137638929del	GRCh38
NC_000005.9:g.136974618del , CM000667.1:g.136974618del	GRCh37
NC_000005.8:g.137002517del	NCBI36
NG_032569.1:g.102165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1219+27del MANE Select	ENSP00000312397.4:n.1219+27del
ENST00000309755.8:c.1219+27del	ENSP00000312397.4:n.1219+27del
ENST00000502381.1:n.806+27del
ENST00000504208.5:c.*335-10489del	ENSP00000423585.1:n.*335-10489del
ENST00000505853.1:c.1099+27del	ENSP00000426173.1:n.1099+27del
ENST00000506491.5:c.973+27del	ENSP00000424828.1:n.973+27del
ENST00000506873.5:n.844+27del
ENST00000508657.5:c.1123+27del	ENSP00000422099.1:n.1123+27del
NM_001257194.1:c.1123+27del	NP_001244123.1:n.1123+27del
NM_001257195.1:c.973+27del	NP_001244124.1:n.973+27del
NM_017415.2:c.1219+27del	NP_059111.2:n.1219+27del
NM_017415.3:c.1219+27del MANE Select	NP_059111.2:n.1219+27del
NM_001257195.2:c.973+27del	NP_001244124.1:n.973+27del