Canonical Allele Identifier: CA2629083595
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66485085-CCCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66485091_66485093del , CM000677.2:g.66485091_66485093del GRCh38
NC_000015.9:g.66777429_66777431del , CM000677.1:g.66777429_66777431del GRCh37
NC_000015.8:g.64564483_64564485del NCBI36
NG_008305.1:g.103219_103221del , LRG_725:g.103219_103221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.628-2137_628-2135del ENSP00000508681.1:n.628-2137_628-2135del
ENST00000685172.1:c.795_797del ENSP00000509604.1:p.Pro266del
ENST00000685763.1:c.648_650del ENSP00000509016.1:p.Pro217del
ENST00000686347.1:c.569-2137_569-2135del ENSP00000509027.1:n.569-2137_569-2135del
ENST00000687191.1:n.1153_1155del
ENST00000687481.1:n.210_212del
ENST00000689951.1:c.846_848del ENSP00000509308.1:p.Pro283del
ENST00000691077.1:c.*32_*34del ENSP00000509843.1:n.*32_*34del
ENST00000691576.1:c.666_668del ENSP00000510066.1:p.Pro223del
ENST00000691937.1:c.795_797del ENSP00000508768.1:p.Pro266del
ENST00000692487.1:c.*32_*34del ENSP00000509534.1:n.*32_*34del
ENST00000692683.1:c.729_731del ENSP00000508437.1:p.Pro244del
ENST00000693150.1:c.651_653del ENSP00000510309.1:p.Pro218del
ENST00000307102.10:c.795_797del MANE Select ENSP00000302486.5:p.Pro266del
ENST00000307102.9:c.795_797del ENSP00000302486.4:p.Pro266del
ENST00000566326.1:c.267_269del ENSP00000456438.1:p.Pro90del
NM_002755.3:c.795_797del , LRG_725t1:c.795_797del NP_002746.1:p.Pro266del
XM_011521783.1:c.729_731del XP_011520085.1:p.Pro244del
XM_011521783.3:c.729_731del XP_011520085.1:p.Pro244del
XM_017022411.2:c.717_719del XP_016877900.1:p.Pro240del
XM_017022412.1:c.651_653del XP_016877901.1:p.Pro218del
XM_017022413.1:c.267_269del XP_016877902.1:p.Pro90del
NM_002755.4:c.795_797del MANE Select NP_002746.1:p.Pro266del
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