Canonical Allele Identifier: CA2629083710
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66485334-C-CATGAGAATA
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485335_66485336insTGAGAATAA , CM000677.2:g.66485335_66485336insTGAGAATAA GRCh38
NC_000015.9:g.66777673_66777674insTGAGAATAA , CM000677.1:g.66777673_66777674insTGAGAATAA GRCh37
NC_000015.8:g.64564727_64564728insTGAGAATAA NCBI36
NG_008305.1:g.103463_103464insTGAGAATAA , LRG_725:g.103463_103464insTGAGAATAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-1893_628-1892insTGAGAATAA ENSP00000508681.1:n.628-1893_628-1892insTGAGAATAA
ENST00000685172.1:c.895+144_895+145insTGAGAATAA ENSP00000509604.1:n.895+144_895+145insTGAGAATAA
ENST00000685763.1:c.748+144_748+145insTGAGAATAA ENSP00000509016.1:n.748+144_748+145insTGAGAATAA
ENST00000686347.1:c.569-1893_569-1892insTGAGAATAA ENSP00000509027.1:n.569-1893_569-1892insTGAGAATAA
ENST00000687191.1:n.1253+144_1253+145insTGAGAATAA
ENST00000687481.1:n.310+144_310+145insTGAGAATAA
ENST00000689951.1:c.946+144_946+145insTGAGAATAA ENSP00000509308.1:n.946+144_946+145insTGAGAATAA
ENST00000691077.1:c.*132+144_*132+145insTGAGAATAA ENSP00000509843.1:n.*132+144_*132+145insTGAGAATAA
ENST00000691576.1:c.766+144_766+145insTGAGAATAA ENSP00000510066.1:n.766+144_766+145insTGAGAATAA
ENST00000691937.1:c.895+144_895+145insTGAGAATAA ENSP00000508768.1:n.895+144_895+145insTGAGAATAA
ENST00000692487.1:c.*132+144_*132+145insTGAGAATAA ENSP00000509534.1:n.*132+144_*132+145insTGAGAATAA
ENST00000692683.1:c.829+144_829+145insTGAGAATAA ENSP00000508437.1:n.829+144_829+145insTGAGAATAA
ENST00000693150.1:c.751+144_751+145insTGAGAATAA ENSP00000510309.1:n.751+144_751+145insTGAGAATAA
ENST00000307102.10:c.895+144_895+145insTGAGAATAA MANE Select ENSP00000302486.5:n.895+144_895+145insTGAGAATAA
ENST00000307102.9:c.895+144_895+145insTGAGAATAA ENSP00000302486.4:n.895+144_895+145insTGAGAATAA
ENST00000566326.1:c.367+144_367+145insTGAGAATAA ENSP00000456438.1:n.367+144_367+145insTGAGAATAA
NM_002755.3:c.895+144_895+145insTGAGAATAA , LRG_725t1:c.895+144_895+145insTGAGAATAA NP_002746.1:n.895+144_895+145insTGAGAATAA
XM_011521783.1:c.829+144_829+145insTGAGAATAA XP_011520085.1:n.829+144_829+145insTGAGAATAA
XM_011521783.3:c.829+144_829+145insTGAGAATAA XP_011520085.1:n.829+144_829+145insTGAGAATAA
XM_017022411.2:c.817+144_817+145insTGAGAATAA XP_016877900.1:n.817+144_817+145insTGAGAATAA
XM_017022412.1:c.751+144_751+145insTGAGAATAA XP_016877901.1:n.751+144_751+145insTGAGAATAA
XM_017022413.1:c.367+144_367+145insTGAGAATAA XP_016877902.1:n.367+144_367+145insTGAGAATAA
NM_002755.4:c.895+144_895+145insTGAGAATAA MANE Select NP_002746.1:n.895+144_895+145insTGAGAATAA
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