Linked Data
dbSNP Id:
rs779528392
ExAC:
11:71152360 A / AGTG
MyVariant Identifiers:
chr11:g.71152360_71152361insGTG (hg19)
chr11:g.71441314_71441315insGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71441316_71441318dup , CM000673.2:g.71441316_71441318dup | GRCh38 |
| NC_000011.9:g.71152362_71152364dup , CM000673.1:g.71152362_71152364dup | GRCh37 |
| NC_000011.8:g.70830010_70830012dup | NCBI36 |
| NG_012655.2:g.12115_12117dup , LRG_340:g.12115_12117dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.536_538dup | ENSP00000435707.3:p.Pro179_Leu180insPro | |
| ENST00000526780.6:c.536_538dup | ENSP00000435668.2:p.Pro179_Leu180insPro | |
| ENST00000527316.6:c.362_364dup | ENSP00000435047.2:p.Pro121_Leu122insPro | |
| ENST00000682708.1:c.536_538dup | ENSP00000506866.1:p.Pro179_Leu180insPro | |
| ENST00000682880.1:c.536_538dup | ENSP00000507520.1:p.Pro179_Leu180insPro | |
| ENST00000683287.1:c.572_574dup | ENSP00000507607.1:p.Pro191_Leu192insPro | |
| ENST00000683714.1:c.536_538dup | ENSP00000508207.1:p.Pro179_Leu180insPro | |
| ENST00000683874.1:n.813_815dup | ||
| ENST00000685320.1:c.-50_-48dup | ENSP00000509319.1:n.-50_-48dup | |
| ENST00000690257.1:c.440_442dup | ENSP00000510750.1:p.Pro147_Leu148insPro | |
| ENST00000355527.8:c.536_538dup MANE Select | ENSP00000347717.4:p.Pro179_Leu180insPro | |
| ENST00000355527.7:c.536_538dup | ENSP00000347717.3:p.Pro179_Leu180insPro | |
| ENST00000407721.6:c.536_538dup | ENSP00000384739.2:p.Pro179_Leu180insPro | |
| ENST00000527316.5:c.440_442dup | ENSP00000435047.1:p.Pro147_Leu148insPro | |
| ENST00000534701.1:n.31_33dup | ||
| NM_001163817.1:c.536_538dup | NP_001157289.1:p.Pro179_Leu180insPro | |
| NM_001360.2:c.536_538dup , LRG_340t1:c.536_538dup | NP_001351.2:p.Pro179_Leu180insPro | |
| XM_011544777.1:c.536_538dup | XP_011543079.1:p.Pro179_Leu180insPro | |
| XM_011544777.2:c.536_538dup | XP_011543079.1:p.Pro179_Leu180insPro | |
| NM_001163817.2:c.536_538dup | NP_001157289.1:p.Pro179_Leu180insPro | |
| NM_001360.3:c.536_538dup MANE Select | NP_001351.2:p.Pro179_Leu180insPro |