Canonical Allele Identifier: CA2840047197

Gene: MAP2K1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435236del , CM000677.2:g.66435236del	GRCh38
NC_000015.9:g.66727574del , CM000677.1:g.66727574del	GRCh37
NC_000015.8:g.64514628del	NCBI36
NG_008305.1:g.53364del , LRG_725:g.53364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.224del	ENSP00000508681.1:p.Lys75SerfsTer2
ENST00000685172.1:c.290del	ENSP00000509604.1:p.Lys97SerfsTer2
ENST00000685763.1:c.290del	ENSP00000509016.1:p.Lys97ArgfsTer10
ENST00000686347.1:c.290del	ENSP00000509027.1:p.Lys97SerfsTer2
ENST00000687191.1:n.726del
ENST00000689951.1:c.290del	ENSP00000509308.1:p.Lys97SerfsTer2
ENST00000691077.1:c.290del	ENSP00000509843.1:p.Lys97SerfsTer2
ENST00000691576.1:c.290del	ENSP00000510066.1:p.Lys97SerfsTer2
ENST00000691937.1:c.290del	ENSP00000508768.1:p.Lys97SerfsTer2
ENST00000692487.1:c.290del	ENSP00000509534.1:p.Lys97SerfsTer2
ENST00000692683.1:c.224del	ENSP00000508437.1:p.Lys75SerfsTer2
ENST00000693150.1:c.224del	ENSP00000510309.1:p.Lys75SerfsTer2
ENST00000307102.10:c.290del MANE Select	ENSP00000302486.5:p.Lys97SerfsTer2
ENST00000307102.9:c.290del	ENSP00000302486.4:p.Lys97SerfsTer2
ENST00000425818.2:n.801del
NM_002755.3:c.290del , LRG_725t1:c.290del	NP_002746.1:p.Lys97SerfsTer2
XM_011521783.1:c.224del	XP_011520085.1:p.Lys75SerfsTer2
XM_011521783.3:c.224del	XP_011520085.1:p.Lys75SerfsTer2
XM_017022411.2:c.290del	XP_016877900.1:p.Lys97SerfsTer2
XM_017022412.1:c.224del	XP_016877901.1:p.Lys75SerfsTer2
NM_002755.4:c.290del MANE Select	NP_002746.1:p.Lys97SerfsTer2