Canonical Allele Identifier: CA2563258997
Gene: MAP2K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66435059del , CM000677.2:g.66435059del GRCh38
NC_000015.9:g.66727397del , CM000677.1:g.66727397del GRCh37
NC_000015.8:g.64514451del NCBI36
NG_008305.1:g.53187del , LRG_725:g.53187del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.47del ENSP00000508681.1:p.Glu16GlyfsTer3
ENST00000685172.1:c.113del ENSP00000509604.1:p.Glu38GlyfsTer3
ENST00000685763.1:c.113del ENSP00000509016.1:p.Glu38GlyfsTer3
ENST00000686347.1:c.113del ENSP00000509027.1:p.Glu38GlyfsTer3
ENST00000687191.1:n.549del
ENST00000689951.1:c.113del ENSP00000509308.1:p.Glu38GlyfsTer3
ENST00000691077.1:c.113del ENSP00000509843.1:p.Glu38GlyfsTer3
ENST00000691576.1:c.113del ENSP00000510066.1:p.Glu38GlyfsTer3
ENST00000691937.1:c.113del ENSP00000508768.1:p.Glu38GlyfsTer3
ENST00000692487.1:c.113del ENSP00000509534.1:p.Glu38GlyfsTer3
ENST00000692683.1:c.47del ENSP00000508437.1:p.Glu16GlyfsTer3
ENST00000693150.1:c.47del ENSP00000510309.1:p.Glu16GlyfsTer3
ENST00000307102.10:c.113del MANE Select ENSP00000302486.5:p.Glu38GlyfsTer3
ENST00000307102.9:c.113del ENSP00000302486.4:p.Glu38GlyfsTer3
ENST00000425818.2:n.624del
NM_002755.3:c.113del , LRG_725t1:c.113del NP_002746.1:p.Glu38GlyfsTer3
XM_011521783.1:c.47del XP_011520085.1:p.Glu16GlyfsTer3
XM_011521783.3:c.47del XP_011520085.1:p.Glu16GlyfsTer3
XM_017022411.2:c.113del XP_016877900.1:p.Glu38GlyfsTer3
XM_017022412.1:c.47del XP_016877901.1:p.Glu16GlyfsTer3
NM_002755.4:c.113del MANE Select NP_002746.1:p.Glu38GlyfsTer3