Linked Data
dbSNP Id:
rs768028722
ExAC:
15:66782768 ATT / A
gnomAD v2:
15-66782768-ATT-A
gnomAD v3:
15-66490430-ATT-A
gnomAD v4:
15-66490430-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490433_66490434del , CM000677.2:g.66490433_66490434del | GRCh38 |
| NC_000015.9:g.66782771_66782772del , CM000677.1:g.66782771_66782772del | GRCh37 |
| NC_000015.8:g.64569825_64569826del | NCBI36 |
| NG_008305.1:g.108561_108562del , LRG_725:g.108561_108562del | |
| NG_051234.1:g.12384_12385del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*117-69_*117-68del (MAP2K1) | ENSP00000508681.1:n.*117-69_*117-68del | |
| ENST00000685172.1:c.1023-69_1023-68del (MAP2K1) | ENSP00000509604.1:n.1023-69_1023-68del | |
| ENST00000685763.1:c.922-69_922-68del (MAP2K1) | ENSP00000509016.1:n.922-69_922-68del | |
| ENST00000686347.1:c.742-69_742-68del (MAP2K1) | ENSP00000509027.1:n.742-69_742-68del | |
| ENST00000687191.1:n.3349-69_3349-68del (MAP2K1) | ||
| ENST00000687481.1:n.484-69_484-68del (MAP2K1) | ||
| ENST00000688689.1:n.824-69_824-68del (MAP2K1) | ||
| ENST00000689951.1:c.1120-69_1120-68del (MAP2K1) | ENSP00000509308.1:n.1120-69_1120-68del | |
| ENST00000691077.1:c.*2228-69_*2228-68del (MAP2K1) | ENSP00000509843.1:n.*2228-69_*2228-68del | |
| ENST00000691576.1:c.940-69_940-68del (MAP2K1) | ENSP00000510066.1:n.940-69_940-68del | |
| ENST00000691937.1:c.*50-69_*50-68del (MAP2K1) | ENSP00000508768.1:n.*50-69_*50-68del | |
| ENST00000692487.1:c.*2669-69_*2669-68del (MAP2K1) | ENSP00000509534.1:n.*2669-69_*2669-68del | |
| ENST00000692683.1:c.1003-69_1003-68del (MAP2K1) | ENSP00000508437.1:n.1003-69_1003-68del | |
| ENST00000693150.1:c.925-69_925-68del (MAP2K1) | ENSP00000510309.1:n.925-69_925-68del | |
| ENST00000307102.10:c.1069-69_1069-68del (MAP2K1) MANE Select | ENSP00000302486.5:n.1069-69_1069-68del | |
| ENST00000307102.9:c.1069-69_1069-68del (MAP2K1) | ENSP00000302486.4:n.1069-69_1069-68del | |
| ENST00000395589.6:c.*307_*308del (SNAPC5) | ENSP00000378954.2:n.*307_*308del | |
| ENST00000563480.6:c.*307_*308del (SNAPC5) | ENSP00000457892.1:n.*307_*308del | |
| ENST00000566326.1:c.541-69_541-68del (MAP2K1) | ENSP00000456438.1:n.541-69_541-68del | |
| NM_002755.3:c.1069-69_1069-68del , LRG_725t1:c.1069-69_1069-68del (MAP2K1) | NP_002746.1:n.1069-69_1069-68del | |
| NM_006049.2:c.*307_*308del (SNAPC5) | NP_006040.1:n.*307_*308del | |
| XM_011521783.1:c.1003-69_1003-68del (MAP2K1) | XP_011520085.1:n.1003-69_1003-68del | |
| NM_006049.3:c.*307_*308del (SNAPC5) | NP_006040.1:n.*307_*308del | |
| NR_138061.1:n.826_827del (SNAPC5) | ||
| XM_011521783.3:c.1003-69_1003-68del (MAP2K1) | XP_011520085.1:n.1003-69_1003-68del | |
| XM_017022411.2:c.991-69_991-68del (MAP2K1) | XP_016877900.1:n.991-69_991-68del | |
| XM_017022412.1:c.925-69_925-68del (MAP2K1) | XP_016877901.1:n.925-69_925-68del | |
| XM_017022413.1:c.541-69_541-68del (MAP2K1) | XP_016877902.1:n.541-69_541-68del | |
| NM_002755.4:c.1069-69_1069-68del (MAP2K1) MANE Select | NP_002746.1:n.1069-69_1069-68del | |
| NM_006049.4:c.*307_*308del (SNAPC5) | NP_006040.1:n.*307_*308del | |
| NR_138061.2:n.773_774del (SNAPC5) |