Canonical Allele Identifier: CA2675415943

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137627915-GATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137627916_137627918del , CM000667.2:g.137627916_137627918del	GRCh38
NC_000005.9:g.136963605_136963607del , CM000667.1:g.136963605_136963607del	GRCh37
NC_000005.8:g.136991504_136991506del	NCBI36
NG_032569.1:g.113173_113175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+379_1591+381del MANE Select	ENSP00000312397.4:n.1591+379_1591+381del
ENST00000309755.8:c.1591+379_1591+381del	ENSP00000312397.4:n.1591+379_1591+381del
ENST00000447439.6:n.1647+379_1647+381del
ENST00000504208.5:c.*475+379_*475+381del	ENSP00000423585.1:n.*475+379_*475+381del
ENST00000506491.5:c.1345+379_1345+381del	ENSP00000424828.1:n.1345+379_1345+381del
ENST00000506873.5:n.1114+379_1114+381del
ENST00000508657.5:c.1495+379_1495+381del	ENSP00000422099.1:n.1495+379_1495+381del
ENST00000509694.1:n.622+141_622+143del
NM_001257194.1:c.1495+379_1495+381del	NP_001244123.1:n.1495+379_1495+381del
NM_001257195.1:c.1345+379_1345+381del	NP_001244124.1:n.1345+379_1345+381del
NM_017415.2:c.1591+379_1591+381del	NP_059111.2:n.1591+379_1591+381del
NM_017415.3:c.1591+379_1591+381del MANE Select	NP_059111.2:n.1591+379_1591+381del
NM_001257195.2:c.1345+379_1345+381del	NP_001244124.1:n.1345+379_1345+381del