Canonical Allele Identifier: CA128103698

Gene: KLHL3

Linked Data

• dbSNP Id: rs767477831
• gnomAD v2: 5-136974481-GCT-G
• gnomAD v3: 5-137638792-GCT-G
• gnomAD v4: 5-137638792-GCT-G
• MyVariant Identifiers: chr5:g.136974482_136974483del (hg19) ; chr5:g.137638793_137638794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638795_137638796del , CM000667.2:g.137638795_137638796del	GRCh38
NC_000005.9:g.136974484_136974485del , CM000667.1:g.136974484_136974485del	GRCh37
NC_000005.8:g.137002383_137002384del	NCBI36
NG_032569.1:g.102297_102298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1219+159_1219+160del MANE Select	ENSP00000312397.4:n.1219+159_1219+160del
ENST00000309755.8:c.1219+159_1219+160del	ENSP00000312397.4:n.1219+159_1219+160del
ENST00000502381.1:n.806+159_806+160del
ENST00000504208.5:c.*335-10357_*335-10356del	ENSP00000423585.1:n.*335-10357_*335-10356del
ENST00000505853.1:c.1099+159_1099+160del	ENSP00000426173.1:n.1099+159_1099+160del
ENST00000506491.5:c.973+159_973+160del	ENSP00000424828.1:n.973+159_973+160del
ENST00000506873.5:n.844+159_844+160del
ENST00000508657.5:c.1123+159_1123+160del	ENSP00000422099.1:n.1123+159_1123+160del
NM_001257194.1:c.1123+159_1123+160del	NP_001244123.1:n.1123+159_1123+160del
NM_001257195.1:c.973+159_973+160del	NP_001244124.1:n.973+159_973+160del
NM_017415.2:c.1219+159_1219+160del	NP_059111.2:n.1219+159_1219+160del
NM_017415.3:c.1219+159_1219+160del MANE Select	NP_059111.2:n.1219+159_1219+160del
NM_001257195.2:c.973+159_973+160del	NP_001244124.1:n.973+159_973+160del