Canonical Allele Identifier: CA2580613855
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2571919
ClinVar RCV Id: RCV003313628

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66489763_66489764delinsCA , CM000677.2:g.66489763_66489764delinsCA GRCh38
NC_000015.9:g.66782101_66782102delinsCA , CM000677.1:g.66782101_66782102delinsCA GRCh37
NC_000015.8:g.64569155_64569156delinsCA NCBI36
NG_008305.1:g.107891_107892delinsCA , LRG_725:g.107891_107892delinsCA
NG_051234.1:g.13052_13053delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*116_*116+1delinsCA (MAP2K1)
ENST00000685172.1:c.1022+487_1022+488delinsCA (MAP2K1) ENSP00000509604.1:n.1022+487_1022+488delinsCA
ENST00000685763.1:c.921_921+1delinsCA (MAP2K1)
ENST00000686347.1:c.741_741+1delinsCA (MAP2K1)
ENST00000687191.1:n.3348_3348+1delinsCA (MAP2K1)
ENST00000687481.1:n.483_483+1delinsCA (MAP2K1)
ENST00000688689.1:n.823_823+1delinsCA (MAP2K1)
ENST00000689951.1:c.1119_1119+1delinsCA (MAP2K1)
ENST00000691077.1:c.*2227_*2227+1delinsCA (MAP2K1)
ENST00000691576.1:c.939_939+1delinsCA (MAP2K1)
ENST00000691937.1:c.*49_*49+1delinsCA (MAP2K1)
ENST00000692487.1:c.*2668_*2668+1delinsCA (MAP2K1)
ENST00000692683.1:c.1002_1002+1delinsCA (MAP2K1)
ENST00000693150.1:c.924_924+1delinsCA (MAP2K1)
ENST00000307102.10:c.1068_1068+1delinsCA (MAP2K1)
ENST00000307102.9:c.1068_1068+1delinsCA (MAP2K1)
ENST00000566326.1:c.540_540+1delinsCA (MAP2K1)
NM_002755.3:c.1068_1068+1delinsCA , LRG_725t1:c.1068_1068+1delinsCA (MAP2K1)
XM_011521783.1:c.1002_1002+1delinsCA (MAP2K1)
NM_006049.3:c.*975_*976delinsTG (SNAPC5) NP_006040.1:n.*975_*976delinsTG
NR_138061.1:n.1494_1495delinsTG (SNAPC5)
XM_011521783.3:c.1002_1002+1delinsCA (MAP2K1)
XM_017022411.2:c.990_990+1delinsCA (MAP2K1)
XM_017022412.1:c.924_924+1delinsCA (MAP2K1)
XM_017022413.1:c.540_540+1delinsCA (MAP2K1)
NM_002755.4:c.1068_1068+1delinsCA (MAP2K1)
NM_006049.4:c.*975_*976delinsTG (SNAPC5) NP_006040.1:n.*975_*976delinsTG
NR_138061.2:n.1441_1442delinsTG (SNAPC5)