Canonical Allele Identifier: CA645509029
Gene: KLHL40 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688259_42688261delinsAGATCAAGGT , CM000665.2:g.42688259_42688261delinsAGATCAAGGT GRCh38
NC_000003.11:g.42729751_42729753delinsAGATCAAGGT , CM000665.1:g.42729751_42729753delinsAGATCAAGGT GRCh37
NC_000003.10:g.42704755_42704757delinsAGATCAAGGT NCBI36
NG_033035.1:g.7741_7743delinsAGATCAAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1270_1272delinsAGATCAAGGT MANE Select ENSP00000287777.4:p.Asp424ArgfsTer23
ENST00000287777.4:c.1270_1272delinsAGATCAAGGT ENSP00000287777.4:p.Asp424ArgfsTer23
NM_152393.3:c.1270_1272delinsAGATCAAGGT NP_689606.2:p.Asp424ArgfsTer23
XM_005264866.2:c.1270_1272delinsAGATCAAGGT XP_005264923.1:p.Asp424ArgfsTer27
NM_152393.4:c.1270_1272delinsAGATCAAGGT MANE Select NP_689606.2:p.Asp424ArgfsTer23
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