Canonical Allele Identifier: CA134591
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 44586
ClinVar RCV Id: RCV000037588 RCV000157994 RCV000296799 RCV000349253 RCV001727530 RCV001813321
dbSNP Id: rs397516788
ExAC: 15:66782108 CTATT / C
gnomAD v2: 15-66782108-CTATT-C
gnomAD v3: 15-66489770-CTATT-C
gnomAD v4: 15-66489770-CTATT-C
MyVariant Identifiers: chr15:g.66782113_66782116del (hg19) chr15:g.66782109_66782112del (hg19) chr15:g.66489775_66489778del (hg38) chr15:g.66489772_66489775del (hg38) chr15:g.66489771_66489774del (hg38)
ERepo: CA134591/MONDO:0021060/004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66489775_66489778del , CM000677.2:g.66489775_66489778del GRCh38
NC_000015.9:g.66782113_66782116del , CM000677.1:g.66782113_66782116del GRCh37
NC_000015.8:g.64569167_64569170del NCBI36
NG_008305.1:g.107903_107906del , LRG_725:g.107903_107906del
NG_051234.1:g.13042_13045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*116+12_*116+15del (MAP2K1) ENSP00000508681.1:n.*116+12_*116+15del
ENST00000685172.1:c.1022+499_1022+502del (MAP2K1) ENSP00000509604.1:n.1022+499_1022+502del
ENST00000685763.1:c.921+12_921+15del (MAP2K1) ENSP00000509016.1:n.921+12_921+15del
ENST00000686347.1:c.741+12_741+15del (MAP2K1) ENSP00000509027.1:n.741+12_741+15del
ENST00000687191.1:n.3348+12_3348+15del (MAP2K1)
ENST00000687481.1:n.483+12_483+15del (MAP2K1)
ENST00000688689.1:n.823+12_823+15del (MAP2K1)
ENST00000689951.1:c.1119+12_1119+15del (MAP2K1) ENSP00000509308.1:n.1119+12_1119+15del
ENST00000691077.1:c.*2227+12_*2227+15del (MAP2K1) ENSP00000509843.1:n.*2227+12_*2227+15del
ENST00000691576.1:c.939+12_939+15del (MAP2K1) ENSP00000510066.1:n.939+12_939+15del
ENST00000691937.1:c.*49+12_*49+15del (MAP2K1) ENSP00000508768.1:n.*49+12_*49+15del
ENST00000692487.1:c.*2668+12_*2668+15del (MAP2K1) ENSP00000509534.1:n.*2668+12_*2668+15del
ENST00000692683.1:c.1002+12_1002+15del (MAP2K1) ENSP00000508437.1:n.1002+12_1002+15del
ENST00000693150.1:c.924+12_924+15del (MAP2K1) ENSP00000510309.1:n.924+12_924+15del
ENST00000307102.10:c.1068+12_1068+15del (MAP2K1) MANE Select ENSP00000302486.5:n.1068+12_1068+15del
ENST00000307102.9:c.1068+12_1068+15del (MAP2K1) ENSP00000302486.4:n.1068+12_1068+15del
ENST00000566326.1:c.540+12_540+15del (MAP2K1) ENSP00000456438.1:n.540+12_540+15del
NM_002755.3:c.1068+12_1068+15del , LRG_725t1:c.1068+12_1068+15del (MAP2K1) NP_002746.1:n.1068+12_1068+15del
XM_011521783.1:c.1002+12_1002+15del (MAP2K1) XP_011520085.1:n.1002+12_1002+15del
NM_006049.3:c.*965_*968del (SNAPC5) NP_006040.1:n.*965_*968del
NR_138061.1:n.1484_1487del (SNAPC5)
XM_011521783.3:c.1002+12_1002+15del (MAP2K1) XP_011520085.1:n.1002+12_1002+15del
XM_017022411.2:c.990+12_990+15del (MAP2K1) XP_016877900.1:n.990+12_990+15del
XM_017022412.1:c.924+12_924+15del (MAP2K1) XP_016877901.1:n.924+12_924+15del
XM_017022413.1:c.540+12_540+15del (MAP2K1) XP_016877902.1:n.540+12_540+15del
NM_002755.4:c.1068+12_1068+15del (MAP2K1) MANE Select NP_002746.1:n.1068+12_1068+15del
NM_006049.4:c.*965_*968del (SNAPC5) NP_006040.1:n.*965_*968del
NR_138061.2:n.1431_1434del (SNAPC5)
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