Linked Data
dbSNP Id:
rs35969619
gnomAD v3:
2-38984487-A-AACTTACTT
gnomAD v4:
2-38984487-A-AACTTACTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38984492_38984493insCTTACTTA , CM000664.2:g.38984492_38984493insCTTACTTA | GRCh38 |
| NC_000002.11:g.39211633_39211634insCTTACTTA , CM000664.1:g.39211633_39211634insCTTACTTA | GRCh37 |
| NC_000002.10:g.39065137_39065138insCTTACTTA | NCBI36 |
| NG_007530.1:g.140976_140977insAAGTAAGT , LRG_754:g.140976_140977insAAGTAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.*1336_*1337insAAGTAAGT | ENSP00000509424.1:n.*1336_*1337insAAGTAAGT | |
| ENST00000686849.1:n.2129_2130insAAGTAAGT | ||
| ENST00000690876.1:c.*2644_*2645insAAGTAAGT | ENSP00000508955.1:n.*2644_*2645insAAGTAAGT | |
| ENST00000692089.1:c.3399+2985_3399+2986insAAGTAAGT | ENSP00000508626.1:n.3399+2985_3399+2986insAAGTAAGT | |
| ENST00000402219.8:c.*1336_*1337insAAGTAAGT MANE Select | ENSP00000384675.2:n.*1336_*1337insAAGTAAGT | |
| ENST00000402219.6:c.*1336_*1337insAAGTAAGT | ENSP00000384675.2:n.*1336_*1337insAAGTAAGT | |
| ENST00000426016.5:c.*1336_*1337insAAGTAAGT | ENSP00000387784.1:n.*1336_*1337insAAGTAAGT | |
| NM_005633.3:c.*1336_*1337insAAGTAAGT , LRG_754t1:c.*1336_*1337insAAGTAAGT | NP_005624.2:n.*1336_*1337insAAGTAAGT | |
| XM_005264515.3:c.*1336_*1337insAAGTAAGT | XP_005264572.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533060.1:c.*1336_*1337insAAGTAAGT | XP_011531362.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533061.1:c.*1336_*1337insAAGTAAGT | XP_011531363.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533062.1:c.*1336_*1337insAAGTAAGT | XP_011531364.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533063.1:c.*1336_*1337insAAGTAAGT | XP_011531365.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533064.1:c.*1336_*1337insAAGTAAGT | XP_011531366.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533065.1:c.*822_*823insAAGTAAGT | XP_011531367.1:n.*822_*823insAAGTAAGT | |
| XM_011533066.1:c.*1336_*1337insAAGTAAGT | XP_011531368.1:n.*1336_*1337insAAGTAAGT | |
| XM_005264515.4:c.*1336_*1337insAAGTAAGT | XP_005264572.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533062.2:c.*1336_*1337insAAGTAAGT | XP_011531364.1:n.*1336_*1337insAAGTAAGT | |
| XM_011533064.2:c.*1336_*1337insAAGTAAGT | XP_011531366.1:n.*1336_*1337insAAGTAAGT | |
| NM_001382394.1:c.*1336_*1337insAAGTAAGT | NP_001369323.1:n.*1336_*1337insAAGTAAGT | |
| NM_001382395.1:c.*1336_*1337insAAGTAAGT | NP_001369324.1:n.*1336_*1337insAAGTAAGT | |
| NM_005633.4:c.*1336_*1337insAAGTAAGT MANE Select | NP_005624.2:n.*1336_*1337insAAGTAAGT |