Linked Data
dbSNP Id:
rs3832867
ExAC:
12:112338734 T / TA
gnomAD v2:
12-112338734-T-TA
gnomAD v3:
12-111900930-T-TA
gnomAD v4:
12-111900930-T-TA
MyVariant Identifiers:
chr12:g.112338734_112338735insA (hg19)
chr12:g.111900930_111900931insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111900931dup , CM000674.2:g.111900931dup | GRCh38 |
| NC_000012.11:g.112338735dup , CM000674.1:g.112338735dup | GRCh37 |
| NC_000012.10:g.110823118dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550735.7:c.*7870dup (MAPKAPK5) MANE Select | ENSP00000449667.2:n.*7870dup | |
| ENST00000424240.1:n.1669dup (ADAM1A) | ||
| ENST00000550735.6:c.*7870dup (MAPKAPK5) | ENSP00000449667.2:n.*7870dup | |
| NR_036636.1:n.1869dup (ADAM1A) | ||
| XM_011538911.1:c.*16-617dup (MAPKAPK5) | XP_011537213.1:n.*16-617dup | |
| XM_011538915.1:c.*16-617dup (MAPKAPK5) | XP_011537217.1:n.*16-617dup | |
| XM_011538948.1:c.808-5898dup (TMEM116) | XP_011537250.1:n.808-5898dup | |
| XM_011538948.3:c.808-5898dup (TMEM116) | XP_011537250.1:n.808-5898dup | |
| XM_017020127.1:c.*6293dup (MAPKAPK5) | XP_016875616.1:n.*6293dup | |
| XM_017020128.1:c.*4744dup (MAPKAPK5) | XP_016875617.1:n.*4744dup | |
| XM_017020132.1:c.*6293dup (MAPKAPK5) | XP_016875621.1:n.*6293dup | |
| XM_017020133.1:c.*6293dup (MAPKAPK5) | XP_016875622.1:n.*6293dup | |
| XM_017020134.1:c.*6293dup (MAPKAPK5) | XP_016875623.1:n.*6293dup | |
| XM_017020135.2:c.*6293dup (MAPKAPK5) | XP_016875624.1:n.*6293dup | |
| XM_017020136.1:c.*6293dup (MAPKAPK5) | XP_016875625.1:n.*6293dup | |
| XM_017020138.1:c.*6293dup (MAPKAPK5) | XP_016875627.1:n.*6293dup | |
| XM_017020187.2:c.734-5898dup (TMEM116) | XP_016875676.1:n.734-5898dup | |
| XM_024449247.1:c.*6293dup (MAPKAPK5) | XP_024305015.1:n.*6293dup | |
| NM_001371479.1:c.*16-617dup (MAPKAPK5) | NP_001358408.1:n.*16-617dup | |
| NM_001371480.1:c.*4744dup (MAPKAPK5) | NP_001358409.1:n.*4744dup | |
| NM_001371481.1:c.*7870dup (MAPKAPK5) | NP_001358410.1:n.*7870dup | |
| NM_001371482.1:c.*7870dup (MAPKAPK5) | NP_001358411.1:n.*7870dup | |
| NM_001371483.1:c.*7870dup (MAPKAPK5) | NP_001358412.1:n.*7870dup | |
| NM_001371484.1:c.*7870dup (MAPKAPK5) | NP_001358413.1:n.*7870dup | |
| NM_001371485.1:c.*7870dup (MAPKAPK5) | NP_001358414.1:n.*7870dup | |
| NM_001371486.1:c.*7870dup (MAPKAPK5) | NP_001358415.1:n.*7870dup | |
| NM_001371487.1:c.*7870dup (MAPKAPK5) | NP_001358416.1:n.*7870dup | |
| NM_003668.4:c.*7870dup (MAPKAPK5) MANE Select | NP_003659.2:n.*7870dup | |
| NM_139078.3:c.*7870dup (MAPKAPK5) | NP_620777.1:n.*7870dup |