Canonical Allele Identifier: CA645563850
Gene: MAP3K1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56859900_56859901del , CM000667.2:g.56859900_56859901del GRCh38
NC_000005.9:g.56155727_56155728del , CM000667.1:g.56155727_56155728del GRCh37
NC_000005.8:g.56191484_56191485del NCBI36
NG_031884.1:g.49828_49829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.819_820del MANE Select ENSP00000382423.3:p.Arg273SerfsTer27
ENST00000399503.3:c.819_820del ENSP00000382423.3:p.Arg273SerfsTer27
NM_005921.1:c.819_820del NP_005912.1:p.Arg273SerfsTer27
XM_005248519.3:c.441_442del XP_005248576.2:p.Arg147SerfsTer27
XM_011543406.1:c.564_565del XP_011541708.1:p.Arg188SerfsTer27
XM_011543407.1:c.819_820del XP_011541709.1:p.Arg273SerfsTer27
XM_011543408.1:c.819_820del XP_011541710.1:p.Arg273SerfsTer27
XM_017009484.1:c.408_409del XP_016864973.1:p.Arg136SerfsTer27
XM_017009485.1:c.330_331del XP_016864974.1:p.Arg110SerfsTer27
XR_001742068.2:n.850_851del
NM_005921.2:c.819_820del MANE Select NP_005912.1:p.Arg273SerfsTer27