Canonical Allele Identifier: CA2697549136
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2691459
ClinVar RCV Id: RCV003489704
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66435251_66435256delinsTCTCAC , CM000677.2:g.66435251_66435256delinsTCTCAC GRCh38
NC_000015.9:g.66727589_66727594delinsTCTCAC , CM000677.1:g.66727589_66727594delinsTCTCAC GRCh37
NC_000015.8:g.64514643_64514648delinsTCTCAC NCBI36
NG_008305.1:g.53379_53384delinsTCTCAC , LRG_725:g.53379_53384delinsTCTCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.225+14_225+19delinsTCTCAC ENSP00000508681.1:n.225+14_225+19delinsTCTCAC
ENST00000685172.1:c.291+14_291+19delinsTCTCAC ENSP00000509604.1:n.291+14_291+19delinsTCTCAC
ENST00000685763.1:c.291+14_291+19delinsTCTCAC ENSP00000509016.1:n.291+14_291+19delinsTCTCAC
ENST00000686347.1:c.291+14_291+19delinsTCTCAC ENSP00000509027.1:n.291+14_291+19delinsTCTCAC
ENST00000687191.1:n.727+14_727+19delinsTCTCAC
ENST00000689951.1:c.291+14_291+19delinsTCTCAC ENSP00000509308.1:n.291+14_291+19delinsTCTCAC
ENST00000691077.1:c.291+14_291+19delinsTCTCAC ENSP00000509843.1:n.291+14_291+19delinsTCTCAC
ENST00000691576.1:c.291+14_291+19delinsTCTCAC ENSP00000510066.1:n.291+14_291+19delinsTCTCAC
ENST00000691937.1:c.291+14_291+19delinsTCTCAC ENSP00000508768.1:n.291+14_291+19delinsTCTCAC
ENST00000692487.1:c.291+14_291+19delinsTCTCAC ENSP00000509534.1:n.291+14_291+19delinsTCTCAC
ENST00000692683.1:c.225+14_225+19delinsTCTCAC ENSP00000508437.1:n.225+14_225+19delinsTCTCAC
ENST00000693150.1:c.225+14_225+19delinsTCTCAC ENSP00000510309.1:n.225+14_225+19delinsTCTCAC
ENST00000307102.10:c.291+14_291+19delinsTCTCAC MANE Select ENSP00000302486.5:n.291+14_291+19delinsTCTCAC
ENST00000307102.9:c.291+14_291+19delinsTCTCAC ENSP00000302486.4:n.291+14_291+19delinsTCTCAC
ENST00000425818.2:n.802+14_802+19delinsTCTCAC
NM_002755.3:c.291+14_291+19delinsTCTCAC , LRG_725t1:c.291+14_291+19delinsTCTCAC NP_002746.1:n.291+14_291+19delinsTCTCAC
XM_011521783.1:c.225+14_225+19delinsTCTCAC XP_011520085.1:n.225+14_225+19delinsTCTCAC
XM_011521783.3:c.225+14_225+19delinsTCTCAC XP_011520085.1:n.225+14_225+19delinsTCTCAC
XM_017022411.2:c.291+14_291+19delinsTCTCAC XP_016877900.1:n.291+14_291+19delinsTCTCAC
XM_017022412.1:c.225+14_225+19delinsTCTCAC XP_016877901.1:n.225+14_225+19delinsTCTCAC
NM_002755.4:c.291+14_291+19delinsTCTCAC MANE Select NP_002746.1:n.291+14_291+19delinsTCTCAC
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