Canonical Allele Identifier: CA2570512171
Gene: MAP3K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56882373_56882375del , CM000667.2:g.56882373_56882375del GRCh38
NC_000005.9:g.56178200_56178202del , CM000667.1:g.56178200_56178202del GRCh37
NC_000005.8:g.56213957_56213959del NCBI36
NG_031884.1:g.72301_72303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.3173_3175del MANE Select ENSP00000382423.3:p.His1058del
ENST00000399503.3:c.3173_3175del ENSP00000382423.3:p.His1058del
NM_005921.1:c.3173_3175del NP_005912.1:p.His1058del
XM_005248519.3:c.2795_2797del XP_005248576.2:p.His932del
XM_011543406.1:c.2918_2920del XP_011541708.1:p.His973del
XM_011543407.1:c.2894_2896del XP_011541709.1:p.His965del
XM_011543408.1:c.3173_3175del XP_011541710.1:p.His1058del
XM_017009484.1:c.2762_2764del XP_016864973.1:p.His921del
XM_017009485.1:c.2684_2686del XP_016864974.1:p.His895del
XR_001742068.2:n.3204_3206del
NM_005921.2:c.3173_3175del MANE Select NP_005912.1:p.His1058del