Canonical Allele Identifier: CA7624144

Gene: MAP2K1 SNAPC5

Linked Data

• dbSNP Id: rs753226868
• ExAC: 15:66782786 TTTTG / T
• gnomAD v2: 15-66782786-TTTTG-T
• gnomAD v3: 15-66490448-TTTTG-T
• gnomAD v4: 15-66490448-TTTTG-T
• MyVariant Identifiers: chr15:g.66782787_66782790del (hg19) ; chr15:g.66490449_66490452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490452_66490455del , CM000677.2:g.66490452_66490455del	GRCh38
NC_000015.9:g.66782790_66782793del , CM000677.1:g.66782790_66782793del	GRCh37
NC_000015.8:g.64569844_64569847del	NCBI36
NG_008305.1:g.108580_108583del , LRG_725:g.108580_108583del
NG_051234.1:g.12364_12367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*117-50_*117-47del (MAP2K1)	ENSP00000508681.1:n.*117-50_*117-47del
ENST00000685172.1:c.1023-50_1023-47del (MAP2K1)	ENSP00000509604.1:n.1023-50_1023-47del
ENST00000685763.1:c.922-50_922-47del (MAP2K1)	ENSP00000509016.1:n.922-50_922-47del
ENST00000686347.1:c.742-50_742-47del (MAP2K1)	ENSP00000509027.1:n.742-50_742-47del
ENST00000687191.1:n.3349-50_3349-47del (MAP2K1)
ENST00000687481.1:n.484-50_484-47del (MAP2K1)
ENST00000688689.1:n.824-50_824-47del (MAP2K1)
ENST00000689951.1:c.1120-50_1120-47del (MAP2K1)	ENSP00000509308.1:n.1120-50_1120-47del
ENST00000691077.1:c.*2228-50_*2228-47del (MAP2K1)	ENSP00000509843.1:n.*2228-50_*2228-47del
ENST00000691576.1:c.940-50_940-47del (MAP2K1)	ENSP00000510066.1:n.940-50_940-47del
ENST00000691937.1:c.*50-50_*50-47del (MAP2K1)	ENSP00000508768.1:n.*50-50_*50-47del
ENST00000692487.1:c.*2669-50_*2669-47del (MAP2K1)	ENSP00000509534.1:n.*2669-50_*2669-47del
ENST00000692683.1:c.1003-50_1003-47del (MAP2K1)	ENSP00000508437.1:n.1003-50_1003-47del
ENST00000693150.1:c.925-50_925-47del (MAP2K1)	ENSP00000510309.1:n.925-50_925-47del
ENST00000307102.10:c.1069-50_1069-47del (MAP2K1) MANE Select	ENSP00000302486.5:n.1069-50_1069-47del
ENST00000307102.9:c.1069-50_1069-47del (MAP2K1)	ENSP00000302486.4:n.1069-50_1069-47del
ENST00000395589.6:c.*287_*290del (SNAPC5)	ENSP00000378954.2:n.*287_*290del
ENST00000563480.6:c.*287_*290del (SNAPC5)	ENSP00000457892.1:n.*287_*290del
ENST00000566326.1:c.541-50_541-47del (MAP2K1)	ENSP00000456438.1:n.541-50_541-47del
NM_002755.3:c.1069-50_1069-47del , LRG_725t1:c.1069-50_1069-47del (MAP2K1)	NP_002746.1:n.1069-50_1069-47del
NM_006049.2:c.*287_*290del (SNAPC5)	NP_006040.1:n.*287_*290del
XM_011521783.1:c.1003-50_1003-47del (MAP2K1)	XP_011520085.1:n.1003-50_1003-47del
NM_006049.3:c.*287_*290del (SNAPC5)	NP_006040.1:n.*287_*290del
NR_138061.1:n.806_809del (SNAPC5)
XM_011521783.3:c.1003-50_1003-47del (MAP2K1)	XP_011520085.1:n.1003-50_1003-47del
XM_017022411.2:c.991-50_991-47del (MAP2K1)	XP_016877900.1:n.991-50_991-47del
XM_017022412.1:c.925-50_925-47del (MAP2K1)	XP_016877901.1:n.925-50_925-47del
XM_017022413.1:c.541-50_541-47del (MAP2K1)	XP_016877902.1:n.541-50_541-47del
NM_002755.4:c.1069-50_1069-47del (MAP2K1) MANE Select	NP_002746.1:n.1069-50_1069-47del
NM_006049.4:c.*287_*290del (SNAPC5)	NP_006040.1:n.*287_*290del
NR_138061.2:n.753_756del (SNAPC5)