Linked Data
dbSNP Id:
rs1567028330
gnomAD v2:
15-66782794-TTTTG-T
gnomAD v4:
15-66490456-TTTTG-T
MyVariant Identifiers:
chr15:g.66782795_66782798del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490460_66490463del , CM000677.2:g.66490460_66490463del | GRCh38 |
| NC_000015.9:g.66782798_66782801del , CM000677.1:g.66782798_66782801del | GRCh37 |
| NC_000015.8:g.64569852_64569855del | NCBI36 |
| NG_008305.1:g.108588_108591del , LRG_725:g.108588_108591del | |
| NG_051234.1:g.12356_12359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*117-42_*117-39del (MAP2K1) | ENSP00000508681.1:n.*117-42_*117-39del | |
| ENST00000685172.1:c.1023-42_1023-39del (MAP2K1) | ENSP00000509604.1:n.1023-42_1023-39del | |
| ENST00000685763.1:c.922-42_922-39del (MAP2K1) | ENSP00000509016.1:n.922-42_922-39del | |
| ENST00000686347.1:c.742-42_742-39del (MAP2K1) | ENSP00000509027.1:n.742-42_742-39del | |
| ENST00000687191.1:n.3349-42_3349-39del (MAP2K1) | ||
| ENST00000687481.1:n.484-42_484-39del (MAP2K1) | ||
| ENST00000688689.1:n.824-42_824-39del (MAP2K1) | ||
| ENST00000689951.1:c.1120-42_1120-39del (MAP2K1) | ENSP00000509308.1:n.1120-42_1120-39del | |
| ENST00000691077.1:c.*2228-42_*2228-39del (MAP2K1) | ENSP00000509843.1:n.*2228-42_*2228-39del | |
| ENST00000691576.1:c.940-42_940-39del (MAP2K1) | ENSP00000510066.1:n.940-42_940-39del | |
| ENST00000691937.1:c.*50-42_*50-39del (MAP2K1) | ENSP00000508768.1:n.*50-42_*50-39del | |
| ENST00000692487.1:c.*2669-42_*2669-39del (MAP2K1) | ENSP00000509534.1:n.*2669-42_*2669-39del | |
| ENST00000692683.1:c.1003-42_1003-39del (MAP2K1) | ENSP00000508437.1:n.1003-42_1003-39del | |
| ENST00000693150.1:c.925-42_925-39del (MAP2K1) | ENSP00000510309.1:n.925-42_925-39del | |
| ENST00000307102.10:c.1069-42_1069-39del (MAP2K1) MANE Select | ENSP00000302486.5:n.1069-42_1069-39del | |
| ENST00000307102.9:c.1069-42_1069-39del (MAP2K1) | ENSP00000302486.4:n.1069-42_1069-39del | |
| ENST00000395589.6:c.*279_*282del (SNAPC5) | ENSP00000378954.2:n.*279_*282del | |
| ENST00000563480.6:c.*279_*282del (SNAPC5) | ENSP00000457892.1:n.*279_*282del | |
| ENST00000566326.1:c.541-42_541-39del (MAP2K1) | ENSP00000456438.1:n.541-42_541-39del | |
| NM_002755.3:c.1069-42_1069-39del , LRG_725t1:c.1069-42_1069-39del (MAP2K1) | NP_002746.1:n.1069-42_1069-39del | |
| NM_006049.2:c.*279_*282del (SNAPC5) | NP_006040.1:n.*279_*282del | |
| XM_011521783.1:c.1003-42_1003-39del (MAP2K1) | XP_011520085.1:n.1003-42_1003-39del | |
| NM_006049.3:c.*279_*282del (SNAPC5) | NP_006040.1:n.*279_*282del | |
| NR_138061.1:n.798_801del (SNAPC5) | ||
| XM_011521783.3:c.1003-42_1003-39del (MAP2K1) | XP_011520085.1:n.1003-42_1003-39del | |
| XM_017022411.2:c.991-42_991-39del (MAP2K1) | XP_016877900.1:n.991-42_991-39del | |
| XM_017022412.1:c.925-42_925-39del (MAP2K1) | XP_016877901.1:n.925-42_925-39del | |
| XM_017022413.1:c.541-42_541-39del (MAP2K1) | XP_016877902.1:n.541-42_541-39del | |
| NM_002755.4:c.1069-42_1069-39del (MAP2K1) MANE Select | NP_002746.1:n.1069-42_1069-39del | |
| NM_006049.4:c.*279_*282del (SNAPC5) | NP_006040.1:n.*279_*282del | |
| NR_138061.2:n.745_748del (SNAPC5) |