Canonical Allele Identifier: CA1081983851

Gene: KLHL3

Linked Data

• dbSNP Id: rs1750525508
• gnomAD v3: 5-137628072-G-GT
• gnomAD v4: 5-137628072-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628072_137628073insT , CM000667.2:g.137628072_137628073insT	GRCh38
NC_000005.9:g.136963761_136963762insT , CM000667.1:g.136963761_136963762insT	GRCh37
NC_000005.8:g.136991660_136991661insT	NCBI36
NG_032569.1:g.113018_113019insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+224_1591+225insA MANE Select	ENSP00000312397.4:n.1591+224_1591+225insA
ENST00000309755.8:c.1591+224_1591+225insA	ENSP00000312397.4:n.1591+224_1591+225insA
ENST00000447439.6:n.1647+224_1647+225insA
ENST00000504208.5:c.*475+224_*475+225insA	ENSP00000423585.1:n.*475+224_*475+225insA
ENST00000506491.5:c.1345+224_1345+225insA	ENSP00000424828.1:n.1345+224_1345+225insA
ENST00000506873.5:n.1114+224_1114+225insA
ENST00000508657.5:c.1495+224_1495+225insA	ENSP00000422099.1:n.1495+224_1495+225insA
ENST00000509694.1:n.608_609insA
NM_001257194.1:c.1495+224_1495+225insA	NP_001244123.1:n.1495+224_1495+225insA
NM_001257195.1:c.1345+224_1345+225insA	NP_001244124.1:n.1345+224_1345+225insA
NM_017415.2:c.1591+224_1591+225insA	NP_059111.2:n.1591+224_1591+225insA
NM_017415.3:c.1591+224_1591+225insA MANE Select	NP_059111.2:n.1591+224_1591+225insA
NM_001257195.2:c.1345+224_1345+225insA	NP_001244124.1:n.1345+224_1345+225insA