Canonical Allele Identifier: CA715040132
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

dbSNP Id: rs1385183849

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490419_66490426del , CM000677.2:g.66490419_66490426del GRCh38
NC_000015.9:g.66782757_66782764del , CM000677.1:g.66782757_66782764del GRCh37
NC_000015.8:g.64569811_64569818del NCBI36
NG_008305.1:g.108547_108554del , LRG_725:g.108547_108554del
NG_051234.1:g.12392_12399del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*117-83_*117-76del (MAP2K1) ENSP00000508681.1:n.*117-83_*117-76del
ENST00000685172.1:c.1023-83_1023-76del (MAP2K1) ENSP00000509604.1:n.1023-83_1023-76del
ENST00000685763.1:c.922-83_922-76del (MAP2K1) ENSP00000509016.1:n.922-83_922-76del
ENST00000686347.1:c.742-83_742-76del (MAP2K1) ENSP00000509027.1:n.742-83_742-76del
ENST00000687191.1:n.3349-83_3349-76del (MAP2K1)
ENST00000687481.1:n.484-83_484-76del (MAP2K1)
ENST00000688689.1:n.824-83_824-76del (MAP2K1)
ENST00000689951.1:c.1120-83_1120-76del (MAP2K1) ENSP00000509308.1:n.1120-83_1120-76del
ENST00000691077.1:c.*2228-83_*2228-76del (MAP2K1) ENSP00000509843.1:n.*2228-83_*2228-76del
ENST00000691576.1:c.940-83_940-76del (MAP2K1) ENSP00000510066.1:n.940-83_940-76del
ENST00000691937.1:c.*50-83_*50-76del (MAP2K1) ENSP00000508768.1:n.*50-83_*50-76del
ENST00000692487.1:c.*2669-83_*2669-76del (MAP2K1) ENSP00000509534.1:n.*2669-83_*2669-76del
ENST00000692683.1:c.1003-83_1003-76del (MAP2K1) ENSP00000508437.1:n.1003-83_1003-76del
ENST00000693150.1:c.925-83_925-76del (MAP2K1) ENSP00000510309.1:n.925-83_925-76del
ENST00000307102.10:c.1069-83_1069-76del (MAP2K1) MANE Select ENSP00000302486.5:n.1069-83_1069-76del
ENST00000307102.9:c.1069-83_1069-76del (MAP2K1) ENSP00000302486.4:n.1069-83_1069-76del
ENST00000395589.6:c.*315_*322del (SNAPC5) ENSP00000378954.2:n.*315_*322del
ENST00000563480.6:c.*315_*322del (SNAPC5) ENSP00000457892.1:n.*315_*322del
ENST00000566326.1:c.541-83_541-76del (MAP2K1) ENSP00000456438.1:n.541-83_541-76del
NM_002755.3:c.1069-83_1069-76del , LRG_725t1:c.1069-83_1069-76del (MAP2K1) NP_002746.1:n.1069-83_1069-76del
NM_006049.2:c.*315_*322del (SNAPC5) NP_006040.1:n.*315_*322del
XM_011521783.1:c.1003-83_1003-76del (MAP2K1) XP_011520085.1:n.1003-83_1003-76del
NM_006049.3:c.*315_*322del (SNAPC5) NP_006040.1:n.*315_*322del
NR_138061.1:n.834_841del (SNAPC5)
XM_011521783.3:c.1003-83_1003-76del (MAP2K1) XP_011520085.1:n.1003-83_1003-76del
XM_017022411.2:c.991-83_991-76del (MAP2K1) XP_016877900.1:n.991-83_991-76del
XM_017022412.1:c.925-83_925-76del (MAP2K1) XP_016877901.1:n.925-83_925-76del
XM_017022413.1:c.541-83_541-76del (MAP2K1) XP_016877902.1:n.541-83_541-76del
NM_002755.4:c.1069-83_1069-76del (MAP2K1) MANE Select NP_002746.1:n.1069-83_1069-76del
NM_006049.4:c.*315_*322del (SNAPC5) NP_006040.1:n.*315_*322del
NR_138061.2:n.781_788del (SNAPC5)