Canonical Allele Identifier: CA2629081329
Gene: MAP2K1 HGNC NCBI

Linked Data

gnomAD v4: 15-66435063-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66435064dup , CM000677.2:g.66435064dup GRCh38
NC_000015.9:g.66727402dup , CM000677.1:g.66727402dup GRCh37
NC_000015.8:g.64514456dup NCBI36
NG_008305.1:g.53192dup , LRG_725:g.53192dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.52dup ENSP00000508681.1:p.Leu18ProfsTer4
ENST00000685172.1:c.118dup ENSP00000509604.1:p.Leu40ProfsTer4
ENST00000685763.1:c.118dup ENSP00000509016.1:p.Leu40ProfsTer4
ENST00000686347.1:c.118dup ENSP00000509027.1:p.Leu40ProfsTer4
ENST00000687191.1:n.554dup
ENST00000689951.1:c.118dup ENSP00000509308.1:p.Leu40ProfsTer4
ENST00000691077.1:c.118dup ENSP00000509843.1:p.Leu40ProfsTer4
ENST00000691576.1:c.118dup ENSP00000510066.1:p.Leu40ProfsTer4
ENST00000691937.1:c.118dup ENSP00000508768.1:p.Leu40ProfsTer4
ENST00000692487.1:c.118dup ENSP00000509534.1:p.Leu40ProfsTer4
ENST00000692683.1:c.52dup ENSP00000508437.1:p.Leu18ProfsTer4
ENST00000693150.1:c.52dup ENSP00000510309.1:p.Leu18ProfsTer4
ENST00000307102.10:c.118dup MANE Select ENSP00000302486.5:p.Leu40ProfsTer4
ENST00000307102.9:c.118dup ENSP00000302486.4:p.Leu40ProfsTer4
ENST00000425818.2:n.629dup
NM_002755.3:c.118dup , LRG_725t1:c.118dup NP_002746.1:p.Leu40ProfsTer4
XM_011521783.1:c.52dup XP_011520085.1:p.Leu18ProfsTer4
XM_011521783.3:c.52dup XP_011520085.1:p.Leu18ProfsTer4
XM_017022411.2:c.118dup XP_016877900.1:p.Leu40ProfsTer4
XM_017022412.1:c.52dup XP_016877901.1:p.Leu18ProfsTer4
NM_002755.4:c.118dup MANE Select NP_002746.1:p.Leu40ProfsTer4
Search 100 bp 5'
Search 100 bp 3'