Canonical Allele Identifier: CA2675417710

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639711-CAAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639721_137639726del , CM000667.2:g.137639721_137639726del	GRCh38
NC_000005.9:g.136975410_136975415del , CM000667.1:g.136975410_136975415del	GRCh37
NC_000005.8:g.137003309_137003314del	NCBI36
NG_032569.1:g.101374_101379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1021+143_1021+148del MANE Select	ENSP00000312397.4:n.1021+143_1021+148del
ENST00000309755.8:c.1021+143_1021+148del	ENSP00000312397.4:n.1021+143_1021+148del
ENST00000502381.1:n.608+143_608+148del
ENST00000504208.5:c.*335-11280_*335-11275del	ENSP00000423585.1:n.*335-11280_*335-11275del
ENST00000505853.1:c.901+143_901+148del	ENSP00000426173.1:n.901+143_901+148del
ENST00000506491.5:c.775+143_775+148del	ENSP00000424828.1:n.775+143_775+148del
ENST00000506873.5:n.646+143_646+148del
ENST00000508657.5:c.925+143_925+148del	ENSP00000422099.1:n.925+143_925+148del
NM_001257194.1:c.925+143_925+148del	NP_001244123.1:n.925+143_925+148del
NM_001257195.1:c.775+143_775+148del	NP_001244124.1:n.775+143_775+148del
NM_017415.2:c.1021+143_1021+148del	NP_059111.2:n.1021+143_1021+148del
NM_017415.3:c.1021+143_1021+148del MANE Select	NP_059111.2:n.1021+143_1021+148del
NM_001257195.2:c.775+143_775+148del	NP_001244124.1:n.775+143_775+148del