Canonical Allele Identifier: CA2675415967

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137627946-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137627948del , CM000667.2:g.137627948del	GRCh38
NC_000005.9:g.136963637del , CM000667.1:g.136963637del	GRCh37
NC_000005.8:g.136991536del	NCBI36
NG_032569.1:g.113144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+350del MANE Select	ENSP00000312397.4:n.1591+350del
ENST00000309755.8:c.1591+350del	ENSP00000312397.4:n.1591+350del
ENST00000447439.6:n.1647+350del
ENST00000504208.5:c.*475+350del	ENSP00000423585.1:n.*475+350del
ENST00000506491.5:c.1345+350del	ENSP00000424828.1:n.1345+350del
ENST00000506873.5:n.1114+350del
ENST00000508657.5:c.1495+350del	ENSP00000422099.1:n.1495+350del
ENST00000509694.1:n.622+112del
NM_001257194.1:c.1495+350del	NP_001244123.1:n.1495+350del
NM_001257195.1:c.1345+350del	NP_001244124.1:n.1345+350del
NM_017415.2:c.1591+350del	NP_059111.2:n.1591+350del
NM_017415.3:c.1591+350del MANE Select	NP_059111.2:n.1591+350del
NM_001257195.2:c.1345+350del	NP_001244124.1:n.1345+350del