Canonical Allele Identifier: CA715033621
Gene: MAP2K1 HGNC NCBI

Linked Data

dbSNP Id: rs1190084642
MyVariant Identifiers: chr15:g.66774187_66774189del (hg19) chr15:g.66481849_66481851del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66481851_66481853del , CM000677.2:g.66481851_66481853del GRCh38
NC_000015.9:g.66774189_66774191del , CM000677.1:g.66774189_66774191del GRCh37
NC_000015.8:g.64561243_64561245del NCBI36
NG_008305.1:g.99979_99981del , LRG_725:g.99979_99981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.599_601del ENSP00000508681.1:p.Ser200del
ENST00000685172.1:c.665_667del ENSP00000509604.1:p.Ser222del
ENST00000685763.1:c.518_520del ENSP00000509016.1:p.Ser173del
ENST00000686347.1:c.569-5377_569-5375del ENSP00000509027.1:n.569-5377_569-5375del
ENST00000687191.1:n.1023_1025del
ENST00000689951.1:c.716_718del ENSP00000509308.1:p.Ser239del
ENST00000691077.1:c.665_667del ENSP00000509843.1:p.Ser222del
ENST00000691576.1:c.569-3143_569-3141del ENSP00000510066.1:n.569-3143_569-3141del
ENST00000691937.1:c.665_667del ENSP00000508768.1:p.Ser222del
ENST00000692487.1:c.665_667del ENSP00000509534.1:p.Ser222del
ENST00000692683.1:c.599_601del ENSP00000508437.1:p.Ser200del
ENST00000693150.1:c.521_523del ENSP00000510309.1:p.Ser174del
ENST00000307102.10:c.665_667del MANE Select ENSP00000302486.5:p.Ser222del
ENST00000307102.9:c.665_667del ENSP00000302486.4:p.Ser222del
ENST00000566326.1:c.137_139del ENSP00000456438.1:p.Ser46del
NM_002755.3:c.665_667del , LRG_725t1:c.665_667del NP_002746.1:p.Ser222del
XM_011521783.1:c.599_601del XP_011520085.1:p.Ser200del
XM_011521783.3:c.599_601del XP_011520085.1:p.Ser200del
XM_017022411.2:c.587_589del XP_016877900.1:p.Ser196del
XM_017022412.1:c.521_523del XP_016877901.1:p.Ser174del
XM_017022413.1:c.137_139del XP_016877902.1:p.Ser46del
NM_002755.4:c.665_667del MANE Select NP_002746.1:p.Ser222del
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