Canonical Allele Identifier: CA2629083409
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66481805-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481806del , CM000677.2:g.66481806del GRCh38
NC_000015.9:g.66774144del , CM000677.1:g.66774144del GRCh37
NC_000015.8:g.64561198del NCBI36
NG_008305.1:g.99934del , LRG_725:g.99934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.554del ENSP00000508681.1:p.Cys185LeufsTer?
ENST00000685172.1:c.620del ENSP00000509604.1:p.Cys207LeufsTer?
ENST00000685763.1:c.473del ENSP00000509016.1:p.Cys158LeufsTer?
ENST00000686347.1:c.569-5422del ENSP00000509027.1:n.569-5422del
ENST00000687191.1:n.978del
ENST00000689951.1:c.671del ENSP00000509308.1:p.Cys224LeufsTer?
ENST00000691077.1:c.620del ENSP00000509843.1:p.Cys207LeufsTer?
ENST00000691576.1:c.569-3188del ENSP00000510066.1:n.569-3188del
ENST00000691937.1:c.620del ENSP00000508768.1:p.Cys207LeufsTer?
ENST00000692487.1:c.620del ENSP00000509534.1:p.Cys207LeufsTer?
ENST00000692683.1:c.554del ENSP00000508437.1:p.Cys185LeufsTer?
ENST00000693150.1:c.476del ENSP00000510309.1:p.Cys159LeufsTer?
ENST00000307102.10:c.620del MANE Select ENSP00000302486.5:p.Cys207LeufsTer?
ENST00000307102.9:c.620del ENSP00000302486.4:p.Cys207LeufsTer?
ENST00000566326.1:c.92del ENSP00000456438.1:p.Cys31LeufsTer?
NM_002755.3:c.620del , LRG_725t1:c.620del NP_002746.1:p.Cys207LeufsTer?
XM_011521783.1:c.554del XP_011520085.1:p.Cys185LeufsTer?
XM_011521783.3:c.554del XP_011520085.1:p.Cys185LeufsTer?
XM_017022411.2:c.542del XP_016877900.1:p.Cys181LeufsTer?
XM_017022412.1:c.476del XP_016877901.1:p.Cys159LeufsTer?
XM_017022413.1:c.92del XP_016877902.1:p.Cys31LeufsTer?
NM_002755.4:c.620del MANE Select NP_002746.1:p.Cys207LeufsTer?
Search 100 bp 5'
Search 100 bp 3'