Canonical Allele Identifier: CA1585511244

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137627975_137627976delinsTA , CM000667.2:g.137627975_137627976delinsTA	GRCh38
NC_000005.9:g.136963664_136963665delinsTA , CM000667.1:g.136963664_136963665delinsTA	GRCh37
NC_000005.8:g.136991563_136991564delinsTA	NCBI36
NG_032569.1:g.113115_113116delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+321_1591+322delinsTA MANE Select	ENSP00000312397.4:n.1591+321_1591+322delinsTA
ENST00000309755.8:c.1591+321_1591+322delinsTA	ENSP00000312397.4:n.1591+321_1591+322delinsTA
ENST00000447439.6:n.1647+321_1647+322delinsTA
ENST00000504208.5:c.*475+321_*475+322delinsTA	ENSP00000423585.1:n.*475+321_*475+322delinsTA
ENST00000506491.5:c.1345+321_1345+322delinsTA	ENSP00000424828.1:n.1345+321_1345+322delinsTA
ENST00000506873.5:n.1114+321_1114+322delinsTA
ENST00000508657.5:c.1495+321_1495+322delinsTA	ENSP00000422099.1:n.1495+321_1495+322delinsTA
ENST00000509694.1:n.622+83_622+84delinsTA
NM_001257194.1:c.1495+321_1495+322delinsTA	NP_001244123.1:n.1495+321_1495+322delinsTA
NM_001257195.1:c.1345+321_1345+322delinsTA	NP_001244124.1:n.1345+321_1345+322delinsTA
NM_017415.2:c.1591+321_1591+322delinsTA	NP_059111.2:n.1591+321_1591+322delinsTA
NM_017415.3:c.1591+321_1591+322delinsTA MANE Select	NP_059111.2:n.1591+321_1591+322delinsTA
NM_001257195.2:c.1345+321_1345+322delinsTA	NP_001244124.1:n.1345+321_1345+322delinsTA