Canonical Allele Identifier: CA645570537

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 1691383
• ClinVar RCV Id: RCV002254481 ; RCV003458851
• dbSNP Id: rs2140579005
• COSMIC: COSM5031100

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435119_66435133del , CM000677.2:g.66435119_66435133del	GRCh38
NC_000015.9:g.66727457_66727471del , CM000677.1:g.66727457_66727471del	GRCh37
NC_000015.8:g.64514511_64514525del	NCBI36
NG_008305.1:g.53247_53261del , LRG_725:g.53247_53261del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.107_121del	ENSP00000508681.1:p.Gln36_Glu40del
ENST00000685172.1:c.173_187del	ENSP00000509604.1:p.Gln58_Glu62del
ENST00000685763.1:c.173_187del	ENSP00000509016.1:p.Gln58_Glu62del
ENST00000686347.1:c.173_187del	ENSP00000509027.1:p.Gln58_Glu62del
ENST00000687191.1:n.609_623del
ENST00000689951.1:c.173_187del	ENSP00000509308.1:p.Gln58_Glu62del
ENST00000691077.1:c.173_187del	ENSP00000509843.1:p.Gln58_Glu62del
ENST00000691576.1:c.173_187del	ENSP00000510066.1:p.Gln58_Glu62del
ENST00000691937.1:c.173_187del	ENSP00000508768.1:p.Gln58_Glu62del
ENST00000692487.1:c.173_187del	ENSP00000509534.1:p.Gln58_Glu62del
ENST00000692683.1:c.107_121del	ENSP00000508437.1:p.Gln36_Glu40del
ENST00000693150.1:c.107_121del	ENSP00000510309.1:p.Gln36_Glu40del
ENST00000307102.10:c.173_187del MANE Select	ENSP00000302486.5:p.Gln58_Glu62del
ENST00000307102.9:c.173_187del	ENSP00000302486.4:p.Gln58_Glu62del
ENST00000425818.2:n.684_698del
NM_002755.3:c.173_187del , LRG_725t1:c.173_187del	NP_002746.1:p.Gln58_Glu62del
XM_011521783.1:c.107_121del	XP_011520085.1:p.Gln36_Glu40del
XM_011521783.3:c.107_121del	XP_011520085.1:p.Gln36_Glu40del
XM_017022411.2:c.173_187del	XP_016877900.1:p.Gln58_Glu62del
XM_017022412.1:c.107_121del	XP_016877901.1:p.Gln36_Glu40del
NM_002755.4:c.173_187del MANE Select	NP_002746.1:p.Gln58_Glu62del