Canonical Allele Identifier: CA2675416270

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628231-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628232_137628233del , CM000667.2:g.137628232_137628233del	GRCh38
NC_000005.9:g.136963921_136963922del , CM000667.1:g.136963921_136963922del	GRCh37
NC_000005.8:g.136991820_136991821del	NCBI36
NG_032569.1:g.112858_112859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+64_1591+65del MANE Select	ENSP00000312397.4:n.1591+64_1591+65del
ENST00000309755.8:c.1591+64_1591+65del	ENSP00000312397.4:n.1591+64_1591+65del
ENST00000447439.6:n.1647+64_1647+65del
ENST00000504208.5:c.*475+64_*475+65del	ENSP00000423585.1:n.*475+64_*475+65del
ENST00000506491.5:c.1345+64_1345+65del	ENSP00000424828.1:n.1345+64_1345+65del
ENST00000506873.5:n.1114+64_1114+65del
ENST00000508657.5:c.1495+64_1495+65del	ENSP00000422099.1:n.1495+64_1495+65del
ENST00000509694.1:n.448_449del
NM_001257194.1:c.1495+64_1495+65del	NP_001244123.1:n.1495+64_1495+65del
NM_001257195.1:c.1345+64_1345+65del	NP_001244124.1:n.1345+64_1345+65del
NM_017415.2:c.1591+64_1591+65del	NP_059111.2:n.1591+64_1591+65del
NM_017415.3:c.1591+64_1591+65del MANE Select	NP_059111.2:n.1591+64_1591+65del
NM_001257195.2:c.1345+64_1345+65del	NP_001244124.1:n.1345+64_1345+65del