Canonical Allele Identifier: CA2695220905
Gene: MAP2K1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66435090_66435091delinsA , CM000677.2:g.66435090_66435091delinsA GRCh38
NC_000015.9:g.66727428_66727429delinsA , CM000677.1:g.66727428_66727429delinsA GRCh37
NC_000015.8:g.64514482_64514483delinsA NCBI36
NG_008305.1:g.53218_53219delinsA , LRG_725:g.53218_53219delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.78_79delinsA ENSP00000508681.1:p.Arg27AlafsTer15
ENST00000685172.1:c.144_145delinsA ENSP00000509604.1:p.Arg49AlafsTer15
ENST00000685763.1:c.144_145delinsA ENSP00000509016.1:p.Arg49AlafsTer15
ENST00000686347.1:c.144_145delinsA ENSP00000509027.1:p.Arg49AlafsTer15
ENST00000687191.1:n.580_581delinsA
ENST00000689951.1:c.144_145delinsA ENSP00000509308.1:p.Arg49AlafsTer15
ENST00000691077.1:c.144_145delinsA ENSP00000509843.1:p.Arg49AlafsTer15
ENST00000691576.1:c.144_145delinsA ENSP00000510066.1:p.Arg49AlafsTer15
ENST00000691937.1:c.144_145delinsA ENSP00000508768.1:p.Arg49AlafsTer15
ENST00000692487.1:c.144_145delinsA ENSP00000509534.1:p.Arg49AlafsTer15
ENST00000692683.1:c.78_79delinsA ENSP00000508437.1:p.Arg27AlafsTer15
ENST00000693150.1:c.78_79delinsA ENSP00000510309.1:p.Arg27AlafsTer15
ENST00000307102.10:c.144_145delinsA MANE Select ENSP00000302486.5:p.Arg49AlafsTer15
ENST00000307102.9:c.144_145delinsA ENSP00000302486.4:p.Arg49AlafsTer15
ENST00000425818.2:n.655_656delinsA
NM_002755.3:c.144_145delinsA , LRG_725t1:c.144_145delinsA NP_002746.1:p.Arg49AlafsTer15
XM_011521783.1:c.78_79delinsA XP_011520085.1:p.Arg27AlafsTer15
XM_011521783.3:c.78_79delinsA XP_011520085.1:p.Arg27AlafsTer15
XM_017022411.2:c.144_145delinsA XP_016877900.1:p.Arg49AlafsTer15
XM_017022412.1:c.78_79delinsA XP_016877901.1:p.Arg27AlafsTer15
NM_002755.4:c.144_145delinsA MANE Select NP_002746.1:p.Arg49AlafsTer15