Linked Data
dbSNP Id:
rs767602487
gnomAD v2:
11-71146806-T-TAGCCCACCAG
gnomAD v3:
11-71435760-T-TAGCCCACCAG
gnomAD v4:
11-71435760-T-TAGCCCACCAG
MyVariant Identifiers:
chr11:g.71146806_71146807insAGCCCACCAG (hg19)
chr11:g.71435760_71435761insAGCCCACCAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435761_71435770dup , CM000673.2:g.71435761_71435770dup | GRCh38 |
| NC_000011.9:g.71146807_71146816dup , CM000673.1:g.71146807_71146816dup | GRCh37 |
| NC_000011.8:g.70824455_70824464dup | NCBI36 |
| NG_012655.2:g.17662_17671dup , LRG_340:g.17662_17671dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1033_1042dup | ENSP00000435707.3:p.Tyr348SerfsTer? | |
| ENST00000526780.6:c.1033_1042dup | ENSP00000435668.2:p.Tyr348SerfsTer? | |
| ENST00000527316.6:c.859_868dup | ENSP00000435047.2:p.Tyr290SerfsTer? | |
| ENST00000682708.1:c.1084_1093dup | ENSP00000506866.1:p.Tyr365SerfsTer? | |
| ENST00000683287.1:c.1069_1078dup | ENSP00000507607.1:p.Tyr360SerfsTer? | |
| ENST00000683714.1:c.1041_1050dup | ENSP00000508207.1:p.Thr351LeufsTer? | |
| ENST00000684396.1:n.1073_1082dup | ||
| ENST00000685320.1:c.448_457dup | ENSP00000509319.1:p.Tyr153SerfsTer? | |
| ENST00000690257.1:c.937_946dup | ENSP00000510750.1:p.Tyr316SerfsTer? | |
| ENST00000355527.8:c.1033_1042dup MANE Select | ENSP00000347717.4:p.Tyr348SerfsTer? | |
| ENST00000355527.7:c.1033_1042dup | ENSP00000347717.3:p.Tyr348SerfsTer? | |
| ENST00000407721.6:c.1033_1042dup | ENSP00000384739.2:p.Tyr348SerfsTer? | |
| ENST00000525137.1:c.534_543dup | ENSP00000435956.1:p.Thr182LeufsTer? | |
| ENST00000533800.5:c.283_292dup | ENSP00000435011.1:p.Tyr98SerfsTer? | |
| ENST00000534795.5:c.319+2042_319+2051dup | ||
| NM_001163817.1:c.1033_1042dup | NP_001157289.1:p.Tyr348SerfsTer? | |
| NM_001360.2:c.1033_1042dup , LRG_340t1:c.1033_1042dup | NP_001351.2:p.Tyr348SerfsTer? | |
| XM_011544777.1:c.1167_1176dup | XP_011543079.1:p.Thr393LeufsTer? | |
| XM_011544777.2:c.1167_1176dup | XP_011543079.1:p.Thr393LeufsTer? | |
| NM_001163817.2:c.1033_1042dup | NP_001157289.1:p.Tyr348SerfsTer? | |
| NM_001360.3:c.1033_1042dup MANE Select | NP_001351.2:p.Tyr348SerfsTer? |