This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490514_66490517delinsG , CM000677.2:g.66490514_66490517delinsG | GRCh38 |
| NC_000015.9:g.66782852_66782855delinsG , CM000677.1:g.66782852_66782855delinsG | GRCh37 |
| NC_000015.8:g.64569906_64569909delinsG | NCBI36 |
| NG_008305.1:g.108642_108645delinsG , LRG_725:g.108642_108645delinsG | |
| NG_051234.1:g.12299_12302delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*129_*132delinsG (MAP2K1) | ENSP00000508681.1:n.*129_*132delinsG | |
| ENST00000685172.1:c.1035_1038delinsG (MAP2K1) | ENSP00000509604.1:p.Ser346del | |
| ENST00000685763.1:c.934_937delinsG (MAP2K1) | ENSP00000509016.1:p.Ile312_Lys313delinsGlu | |
| ENST00000686347.1:c.754_757delinsG (MAP2K1) | ENSP00000509027.1:p.Ile252_Lys253delinsGlu | |
| ENST00000687191.1:n.3361_3364delinsG (MAP2K1) | ||
| ENST00000687481.1:n.496_499delinsG (MAP2K1) | ||
| ENST00000688689.1:n.836_839delinsG (MAP2K1) | ||
| ENST00000689951.1:c.1132_1135delinsG (MAP2K1) | ENSP00000509308.1:p.Ile378_Lys379delinsGlu | |
| ENST00000691077.1:c.*2240_*2243delinsG (MAP2K1) | ENSP00000509843.1:n.*2240_*2243delinsG | |
| ENST00000691576.1:c.952_955delinsG (MAP2K1) | ENSP00000510066.1:p.Ile318_Lys319delinsGlu | |
| ENST00000691937.1:c.*62_*65delinsG (MAP2K1) | ENSP00000508768.1:n.*62_*65delinsG | |
| ENST00000692487.1:c.*2681_*2684delinsG (MAP2K1) | ENSP00000509534.1:n.*2681_*2684delinsG | |
| ENST00000692683.1:c.1015_1018delinsG (MAP2K1) | ENSP00000508437.1:p.Ile339_Lys340delinsGlu | |
| ENST00000693150.1:c.937_940delinsG (MAP2K1) | ENSP00000510309.1:p.Ile313_Lys314delinsGlu | |
| ENST00000307102.10:c.1081_1084delinsG (MAP2K1) MANE Select | ENSP00000302486.5:p.Ile361_Lys362delinsGlu | |
| ENST00000307102.9:c.1081_1084delinsG (MAP2K1) | ENSP00000302486.4:p.Ile361_Lys362delinsGlu | |
| ENST00000395589.6:c.*222_*225delinsC (SNAPC5) | ENSP00000378954.2:n.*222_*225delinsC | |
| ENST00000563480.6:c.*222_*225delinsC (SNAPC5) | ENSP00000457892.1:n.*222_*225delinsC | |
| ENST00000566326.1:c.553_556delinsG (MAP2K1) | ENSP00000456438.1:p.Ile185_Lys186delinsGlu | |
| NM_002755.3:c.1081_1084delinsG , LRG_725t1:c.1081_1084delinsG (MAP2K1) | NP_002746.1:p.Ile361_Lys362delinsGlu | |
| NM_006049.2:c.*222_*225delinsC (SNAPC5) | NP_006040.1:n.*222_*225delinsC | |
| XM_011521783.1:c.1015_1018delinsG (MAP2K1) | XP_011520085.1:p.Ile339_Lys340delinsGlu | |
| NM_006049.3:c.*222_*225delinsC (SNAPC5) | NP_006040.1:n.*222_*225delinsC | |
| NR_138061.1:n.741_744delinsC (SNAPC5) | ||
| XM_011521783.3:c.1015_1018delinsG (MAP2K1) | XP_011520085.1:p.Ile339_Lys340delinsGlu | |
| XM_017022411.2:c.1003_1006delinsG (MAP2K1) | XP_016877900.1:p.Ile335_Lys336delinsGlu | |
| XM_017022412.1:c.937_940delinsG (MAP2K1) | XP_016877901.1:p.Ile313_Lys314delinsGlu | |
| XM_017022413.1:c.553_556delinsG (MAP2K1) | XP_016877902.1:p.Ile185_Lys186delinsGlu | |
| NM_002755.4:c.1081_1084delinsG (MAP2K1) MANE Select | NP_002746.1:p.Ile361_Lys362delinsGlu | |
| NM_006049.4:c.*222_*225delinsC (SNAPC5) | NP_006040.1:n.*222_*225delinsC | |
| NR_138061.2:n.688_691delinsC (SNAPC5) |