Linked Data
dbSNP Id:
rs1858612142
gnomAD v3:
11-68915195-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTG
gnomAD v4:
11-68915195-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68915196_68915197insTTTTTTTTTTTTTTTTTTTTTTTTTGT , CM000673.2:g.68915196_68915197insTTTTTTTTTTTTTTTTTTTTTTTTTGT | GRCh38 |
| NC_000011.9:g.68682664_68682665insTTTTTTTTTTTTTTTTTTTTTTTTTGT , CM000673.1:g.68682664_68682665insTTTTTTTTTTTTTTTTTTTTTTTTTGT | GRCh37 |
| NC_000011.8:g.68439240_68439241insTTTTTTTTTTTTTTTTTTTTTTTTTGT | NCBI36 |
| NG_007976.1:g.16346_16347insTTTTTTTTTTTTTTTTTTTTTTTTTGT , LRG_250:g.16346_16347insTTTTTTTTTTTTTTTTTTTTTTTTTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT MANE Select | ENSP00000255078.4:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000539224.2:c.1041+173_1041+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ||
| ENST00000674955.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ENSP00000502463.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675118.1:c.259+173_259+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ||
| ENST00000675119.1:c.201+173_201+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ENSP00000501861.1:n.201+173_201+174insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675305.1:c.201+173_201+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ENSP00000502365.1:n.201+173_201+174insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675464.1:c.195+179_195+180insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ENSP00000502650.1:n.195+179_195+180insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675615.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ENSP00000502413.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675683.1:c.299+173_299+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ||
| ENST00000676173.1:n.956+173_956+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ||
| ENST00000676228.1:c.*235+173_*235+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ENSP00000502375.1:n.*235+173_*235+174insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000255078.7:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ENSP00000255078.3:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_002180.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT , LRG_250t1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | NP_002171.2:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | |
| XM_005273974.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | XP_005274031.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005273976.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | XP_005274033.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTG... | |
| XR_247198.1:n.1014+173_1014+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ||
| XR_949903.1:n.1014+173_1014+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ||
| XM_005273976.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | XP_005274033.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTG... | |
| XM_017017669.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | XP_016873158.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_017017670.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | XP_016873159.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_017017671.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | XP_016873160.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTG... | |
| XR_949903.3:n.1010+173_1010+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT | ||
| NM_002180.3:c.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT MANE Select | NP_002171.2:n.912+173_912+174insTTTTTTTTTTTTTTTTTTTTTTTTTGT |