Canonical Allele Identifier: CA2629083594
Gene: MAP2K1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485054del , CM000677.2:g.66485054del GRCh38
NC_000015.9:g.66777392del , CM000677.1:g.66777392del GRCh37
NC_000015.8:g.64564446del NCBI36
NG_008305.1:g.103182del , LRG_725:g.103182del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2174del ENSP00000508681.1:n.628-2174del
ENST00000685172.1:c.758del ENSP00000509604.1:p.Leu253ArgfsTer2
ENST00000685763.1:c.611del ENSP00000509016.1:p.Leu204ArgfsTer2
ENST00000686347.1:c.569-2174del ENSP00000509027.1:n.569-2174del
ENST00000687191.1:n.1116del
ENST00000687481.1:n.173del
ENST00000689951.1:c.809del ENSP00000509308.1:p.Leu270ArgfsTer2
ENST00000691077.1:c.754del ENSP00000509843.1:p.Trp252GlyfsTer?
ENST00000691576.1:c.629del ENSP00000510066.1:p.Leu210ArgfsTer2
ENST00000691937.1:c.758del ENSP00000508768.1:p.Leu253ArgfsTer2
ENST00000692487.1:c.754del ENSP00000509534.1:p.Trp252GlyfsTer?
ENST00000692683.1:c.692del ENSP00000508437.1:p.Leu231ArgfsTer2
ENST00000693150.1:c.614del ENSP00000510309.1:p.Leu205ArgfsTer2
ENST00000307102.10:c.758del MANE Select ENSP00000302486.5:p.Leu253ArgfsTer2
ENST00000307102.9:c.758del ENSP00000302486.4:p.Leu253ArgfsTer2
ENST00000566326.1:c.230del ENSP00000456438.1:p.Leu77ArgfsTer2
NM_002755.3:c.758del , LRG_725t1:c.758del NP_002746.1:p.Leu253ArgfsTer2
XM_011521783.1:c.692del XP_011520085.1:p.Leu231ArgfsTer2
XM_011521783.3:c.692del XP_011520085.1:p.Leu231ArgfsTer2
XM_017022411.2:c.680del XP_016877900.1:p.Leu227ArgfsTer2
XM_017022412.1:c.614del XP_016877901.1:p.Leu205ArgfsTer2
XM_017022413.1:c.230del XP_016877902.1:p.Leu77ArgfsTer2
NM_002755.4:c.758del MANE Select NP_002746.1:p.Leu253ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'