Canonical Allele Identifier: CA2534086982

Gene: KLHL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628032_137628033insTT , CM000667.2:g.137628032_137628033insTT	GRCh38
NC_000005.9:g.136963721_136963722insTT , CM000667.1:g.136963721_136963722insTT	GRCh37
NC_000005.8:g.136991620_136991621insTT	NCBI36
NG_032569.1:g.113059_113060insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+265_1591+266insAA MANE Select	ENSP00000312397.4:n.1591+265_1591+266insAA
ENST00000309755.8:c.1591+265_1591+266insAA	ENSP00000312397.4:n.1591+265_1591+266insAA
ENST00000447439.6:n.1647+265_1647+266insAA
ENST00000504208.5:c.*475+265_*475+266insAA	ENSP00000423585.1:n.*475+265_*475+266insAA
ENST00000506491.5:c.1345+265_1345+266insAA	ENSP00000424828.1:n.1345+265_1345+266insAA
ENST00000506873.5:n.1114+265_1114+266insAA
ENST00000508657.5:c.1495+265_1495+266insAA	ENSP00000422099.1:n.1495+265_1495+266insAA
ENST00000509694.1:n.622+27_622+28insAA
NM_001257194.1:c.1495+265_1495+266insAA	NP_001244123.1:n.1495+265_1495+266insAA
NM_001257195.1:c.1345+265_1345+266insAA	NP_001244124.1:n.1345+265_1345+266insAA
NM_017415.2:c.1591+265_1591+266insAA	NP_059111.2:n.1591+265_1591+266insAA
NM_017415.3:c.1591+265_1591+266insAA MANE Select	NP_059111.2:n.1591+265_1591+266insAA
NM_001257195.2:c.1345+265_1345+266insAA	NP_001244124.1:n.1345+265_1345+266insAA