Canonical Allele Identifier: CA2184089678

Gene: MAP2K1 SNAPC5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490419_66490420delinsGA , CM000677.2:g.66490419_66490420delinsGA	GRCh38
NC_000015.9:g.66782757_66782758delinsGA , CM000677.1:g.66782757_66782758delinsGA	GRCh37
NC_000015.8:g.64569811_64569812delinsGA	NCBI36
NG_008305.1:g.108547_108548delinsGA , LRG_725:g.108547_108548delinsGA
NG_051234.1:g.12396_12397delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*117-83_*117-82delinsGA (MAP2K1)	ENSP00000508681.1:n.*117-83_*117-82delinsGA
ENST00000685172.1:c.1023-83_1023-82delinsGA (MAP2K1)	ENSP00000509604.1:n.1023-83_1023-82delinsGA
ENST00000685763.1:c.922-83_922-82delinsGA (MAP2K1)	ENSP00000509016.1:n.922-83_922-82delinsGA
ENST00000686347.1:c.742-83_742-82delinsGA (MAP2K1)	ENSP00000509027.1:n.742-83_742-82delinsGA
ENST00000687191.1:n.3349-83_3349-82delinsGA (MAP2K1)
ENST00000687481.1:n.484-83_484-82delinsGA (MAP2K1)
ENST00000688689.1:n.824-83_824-82delinsGA (MAP2K1)
ENST00000689951.1:c.1120-83_1120-82delinsGA (MAP2K1)	ENSP00000509308.1:n.1120-83_1120-82delinsGA
ENST00000691077.1:c.*2228-83_*2228-82delinsGA (MAP2K1)	ENSP00000509843.1:n.*2228-83_*2228-82delinsGA
ENST00000691576.1:c.940-83_940-82delinsGA (MAP2K1)	ENSP00000510066.1:n.940-83_940-82delinsGA
ENST00000691937.1:c.*50-83_*50-82delinsGA (MAP2K1)	ENSP00000508768.1:n.*50-83_*50-82delinsGA
ENST00000692487.1:c.*2669-83_*2669-82delinsGA (MAP2K1)	ENSP00000509534.1:n.*2669-83_*2669-82delinsGA
ENST00000692683.1:c.1003-83_1003-82delinsGA (MAP2K1)	ENSP00000508437.1:n.1003-83_1003-82delinsGA
ENST00000693150.1:c.925-83_925-82delinsGA (MAP2K1)	ENSP00000510309.1:n.925-83_925-82delinsGA
ENST00000307102.10:c.1069-83_1069-82delinsGA (MAP2K1) MANE Select	ENSP00000302486.5:n.1069-83_1069-82delinsGA
ENST00000307102.9:c.1069-83_1069-82delinsGA (MAP2K1)	ENSP00000302486.4:n.1069-83_1069-82delinsGA
ENST00000395589.6:c.*319_*320delinsTC (SNAPC5)	ENSP00000378954.2:n.*319_*320delinsTC
ENST00000563480.6:c.*319_*320delinsTC (SNAPC5)	ENSP00000457892.1:n.*319_*320delinsTC
ENST00000566326.1:c.541-83_541-82delinsGA (MAP2K1)	ENSP00000456438.1:n.541-83_541-82delinsGA
NM_002755.3:c.1069-83_1069-82delinsGA , LRG_725t1:c.1069-83_1069-82delinsGA (MAP2K1)	NP_002746.1:n.1069-83_1069-82delinsGA
NM_006049.2:c.*319_*320delinsTC (SNAPC5)	NP_006040.1:n.*319_*320delinsTC
XM_011521783.1:c.1003-83_1003-82delinsGA (MAP2K1)	XP_011520085.1:n.1003-83_1003-82delinsGA
NM_006049.3:c.*319_*320delinsTC (SNAPC5)	NP_006040.1:n.*319_*320delinsTC
NR_138061.1:n.838_839delinsTC (SNAPC5)
XM_011521783.3:c.1003-83_1003-82delinsGA (MAP2K1)	XP_011520085.1:n.1003-83_1003-82delinsGA
XM_017022411.2:c.991-83_991-82delinsGA (MAP2K1)	XP_016877900.1:n.991-83_991-82delinsGA
XM_017022412.1:c.925-83_925-82delinsGA (MAP2K1)	XP_016877901.1:n.925-83_925-82delinsGA
XM_017022413.1:c.541-83_541-82delinsGA (MAP2K1)	XP_016877902.1:n.541-83_541-82delinsGA
NM_002755.4:c.1069-83_1069-82delinsGA (MAP2K1) MANE Select	NP_002746.1:n.1069-83_1069-82delinsGA
NM_006049.4:c.*319_*320delinsTC (SNAPC5)	NP_006040.1:n.*319_*320delinsTC
NR_138061.2:n.785_786delinsTC (SNAPC5)