Canonical Allele Identifier: CA2500550015

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628033_137628034insCTTCTTGTCTCCTATGCCTTCCTGTAGGAAAGATTTACTGTAGTGTATTTAGGTTT , CM000667.2:g.137628033_137628034insCTTCTTGTCTCCTATGCCTTCCTGTAGGAAAGATTTACTGTAGTGTATTTAGGTTT	GRCh38
NC_000005.9:g.136963722_136963723insCTTCTTGTCTCCTATGCCTTCCTGTAGGAAAGATTTACTGTAGTGTATTTAGGTTT , CM000667.1:g.136963722_136963723insCTTCTTGTCTCCTATGCCTTCCTGTAGGAAAGATTTACTGTAGTGTATTTAGGTTT	GRCh37
NC_000005.8:g.136991621_136991622insCTTCTTGTCTCCTATGCCTTCCTGTAGGAAAGATTTACTGTAGTGTATTTAGGTTT	NCBI36
NG_032569.1:g.113057_113058insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+263_1591+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG MANE Select	ENSP00000312397.4:n.1591+263_1591+264insAAACCTAAATACACTACAGTA...
ENST00000309755.8:c.1591+263_1591+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	ENSP00000312397.4:n.1591+263_1591+264insAAACCTAAATACACTACAGTA...
ENST00000447439.6:n.1647+263_1647+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG
ENST00000504208.5:c.*475+263_*475+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	ENSP00000423585.1:n.*475+263_*475+264insAAACCTAAATACACTACAGTA...
ENST00000506491.5:c.1345+263_1345+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	ENSP00000424828.1:n.1345+263_1345+264insAAACCTAAATACACTACAGTA...
ENST00000506873.5:n.1114+263_1114+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG
ENST00000508657.5:c.1495+263_1495+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	ENSP00000422099.1:n.1495+263_1495+264insAAACCTAAATACACTACAGTA...
ENST00000509694.1:n.622+25_622+26insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG
NM_001257194.1:c.1495+263_1495+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	NP_001244123.1:n.1495+263_1495+264insAAACCTAAATACACTACAGTAAAT...
NM_001257195.1:c.1345+263_1345+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	NP_001244124.1:n.1345+263_1345+264insAAACCTAAATACACTACAGTAAAT...
NM_017415.2:c.1591+263_1591+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	NP_059111.2:n.1591+263_1591+264insAAACCTAAATACACTACAGTAAATCTT...
NM_017415.3:c.1591+263_1591+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG MANE Select	NP_059111.2:n.1591+263_1591+264insAAACCTAAATACACTACAGTAAATCTT...
NM_001257195.2:c.1345+263_1345+264insAAACCTAAATACACTACAGTAAATCTTTCCTACAGGAAGGCATAGGAGACAAGAAG	NP_001244124.1:n.1345+263_1345+264insAAACCTAAATACACTACAGTAAAT...