Linked Data
gnomAD v3:
11-68915211-C-CTTTTTTTTTTTTTTTTTTT
gnomAD v4:
11-68915211-C-CTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68915212_68915213insTTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915212_68915213insTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000011.9:g.68682680_68682681insTTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682680_68682681insTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000011.8:g.68439256_68439257insTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007976.1:g.16362_16363insTTTTTTTTTTTTTTTTTTT , LRG_250:g.16362_16363insTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000255078.4:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| ENST00000539224.2:c.1041+189_1041+190insTTTTTTTTTTTTTTTTTTT | ||
| ENST00000674955.1:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT | ENSP00000502463.1:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| ENST00000675118.1:c.259+189_259+190insTTTTTTTTTTTTTTTTTTT | ||
| ENST00000675119.1:c.201+189_201+190insTTTTTTTTTTTTTTTTTTT | ENSP00000501861.1:n.201+189_201+190insTTTTTTTTTTTTTTTTTTT | |
| ENST00000675305.1:c.201+189_201+190insTTTTTTTTTTTTTTTTTTT | ENSP00000502365.1:n.201+189_201+190insTTTTTTTTTTTTTTTTTTT | |
| ENST00000675464.1:c.195+195_195+196insTTTTTTTTTTTTTTTTTTT | ENSP00000502650.1:n.195+195_195+196insTTTTTTTTTTTTTTTTTTT | |
| ENST00000675615.1:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT | ENSP00000502413.1:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| ENST00000675683.1:c.299+189_299+190insTTTTTTTTTTTTTTTTTTT | ||
| ENST00000676173.1:n.956+189_956+190insTTTTTTTTTTTTTTTTTTT | ||
| ENST00000676228.1:c.*235+189_*235+190insTTTTTTTTTTTTTTTTTTT | ENSP00000502375.1:n.*235+189_*235+190insTTTTTTTTTTTTTTTTTTT | |
| ENST00000255078.7:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT | ENSP00000255078.3:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| NM_002180.2:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT , LRG_250t1:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT | NP_002171.2:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| XM_005273974.2:c.-100+189_-100+190insTTTTTTTTTTTTTTTTTTT | XP_005274031.1:n.-100+189_-100+190insTTTTTTTTTTTTTTTTTTT | |
| XM_005273976.1:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT | XP_005274033.1:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| XR_247198.1:n.1014+189_1014+190insTTTTTTTTTTTTTTTTTTT | ||
| XR_949903.1:n.1014+189_1014+190insTTTTTTTTTTTTTTTTTTT | ||
| XM_005273976.2:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT | XP_005274033.1:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| XM_017017669.2:c.-100+189_-100+190insTTTTTTTTTTTTTTTTTTT | XP_016873158.1:n.-100+189_-100+190insTTTTTTTTTTTTTTTTTTT | |
| XM_017017670.2:c.-100+189_-100+190insTTTTTTTTTTTTTTTTTTT | XP_016873159.1:n.-100+189_-100+190insTTTTTTTTTTTTTTTTTTT | |
| XM_017017671.2:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT | XP_016873160.1:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT | |
| XR_949903.3:n.1010+189_1010+190insTTTTTTTTTTTTTTTTTTT | ||
| NM_002180.3:c.912+189_912+190insTTTTTTTTTTTTTTTTTTT MANE Select | NP_002171.2:n.912+189_912+190insTTTTTTTTTTTTTTTTTTT |