Canonical Allele Identifier: CA16042894
Gene: MAP2K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372929
ClinVar RCV Id: RCV000413323
dbSNP Id: rs1057518080

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66435132_66435146del , CM000677.2:g.66435132_66435146del GRCh38
NC_000015.9:g.66727470_66727484del , CM000677.1:g.66727470_66727484del GRCh37
NC_000015.8:g.64514524_64514538del NCBI36
NG_008305.1:g.53260_53274del , LRG_725:g.53260_53274del

Transcript Alleles

HGVS Amino-acid change
ENST00000684779.1:c.120_134del ENSP00000508681.1:p.Glu40_Asp44del
ENST00000685172.1:c.186_200del ENSP00000509604.1:p.Glu62_Asp66del
ENST00000685763.1:c.186_200del ENSP00000509016.1:p.Glu62_Asp66del
ENST00000686347.1:c.186_200del ENSP00000509027.1:p.Glu62_Asp66del
ENST00000687191.1:n.622_636del
ENST00000689951.1:c.186_200del ENSP00000509308.1:p.Glu62_Asp66del
ENST00000691077.1:c.186_200del ENSP00000509843.1:p.Glu62_Asp66del
ENST00000691576.1:c.186_200del ENSP00000510066.1:p.Glu62_Asp66del
ENST00000691937.1:c.186_200del ENSP00000508768.1:p.Glu62_Asp66del
ENST00000692487.1:c.186_200del ENSP00000509534.1:p.Glu62_Asp66del
ENST00000692683.1:c.120_134del ENSP00000508437.1:p.Glu40_Asp44del
ENST00000693150.1:c.120_134del ENSP00000510309.1:p.Glu40_Asp44del
ENST00000307102.10:c.186_200del MANE Select ENSP00000302486.5:p.Glu62_Asp66del
ENST00000307102.9:c.186_200del ENSP00000302486.4:p.Glu62_Asp66del
ENST00000425818.2:n.697_711del
NM_002755.3:c.186_200del , LRG_725t1:c.186_200del NP_002746.1:p.Glu62_Asp66del
XM_011521783.1:c.120_134del XP_011520085.1:p.Glu40_Asp44del
XM_011521783.3:c.120_134del XP_011520085.1:p.Glu40_Asp44del
XM_017022411.2:c.186_200del XP_016877900.1:p.Glu62_Asp66del
XM_017022412.1:c.120_134del XP_016877901.1:p.Glu40_Asp44del
NM_002755.4:c.186_200del MANE Select NP_002746.1:p.Glu62_Asp66del