Canonical Allele Identifier: CA2580089886
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1704022
ClinVar RCV Id: RCV002281357

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66436893_66436897del , CM000677.2:g.66436893_66436897del GRCh38
NC_000015.9:g.66729231_66729235del , CM000677.1:g.66729231_66729235del GRCh37
NC_000015.8:g.64516285_64516289del NCBI36
NG_008305.1:g.55021_55025del , LRG_725:g.55021_55025del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.372+1_372+5del
ENST00000685172.1:c.438+1_438+5del
ENST00000685763.1:c.291+1656_291+1660del ENSP00000509016.1:n.291+1656_291+1660del
ENST00000686347.1:c.438+1_438+5del
ENST00000687191.1:n.874+1_874+5del
ENST00000689951.1:c.438+1_438+5del
ENST00000691077.1:c.438+1_438+5del
ENST00000691576.1:c.438+1_438+5del
ENST00000691937.1:c.438+1_438+5del
ENST00000692487.1:c.438+1_438+5del
ENST00000692683.1:c.372+1_372+5del
ENST00000693150.1:c.372+1_372+5del
ENST00000307102.10:c.438+1_438+5del
ENST00000307102.9:c.438+1_438+5del
ENST00000425818.2:n.949+1_949+5del
NM_002755.3:c.438+1_438+5del , LRG_725t1:c.438+1_438+5del
XM_011521783.1:c.372+1_372+5del
XM_011521783.3:c.372+1_372+5del
XM_017022411.2:c.438+1_438+5del
XM_017022412.1:c.372+1_372+5del
NM_002755.4:c.438+1_438+5del