Linked Data
dbSNP Id:
rs1191505010
gnomAD v3:
11-68915166-C-CCTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
11-68915166-C-CCTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68915166_68915167insCTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915166_68915167insCTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000011.9:g.68682634_68682635insCTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682634_68682635insCTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000011.8:g.68439210_68439211insCTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007976.1:g.16316_16317insCTTTTTTTTTTTTTTTTTTTTTTT , LRG_250:g.16316_16317insCTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000255078.4:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000539224.2:c.1041+143_1041+144insCTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000674955.1:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000502463.1:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675118.1:c.259+143_259+144insCTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000675119.1:c.201+143_201+144insCTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000501861.1:n.201+143_201+144insCTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675305.1:c.201+143_201+144insCTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000502365.1:n.201+143_201+144insCTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675464.1:c.195+149_195+150insCTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000502650.1:n.195+149_195+150insCTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675615.1:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000502413.1:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000675683.1:c.299+143_299+144insCTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000676173.1:n.956+143_956+144insCTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000676228.1:c.*235+143_*235+144insCTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000502375.1:n.*235+143_*235+144insCTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000255078.7:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000255078.3:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_002180.2:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT , LRG_250t1:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | NP_002171.2:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_005273974.2:c.-100+143_-100+144insCTTTTTTTTTTTTTTTTTTTTTTT | XP_005274031.1:n.-100+143_-100+144insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005273976.1:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | XP_005274033.1:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | |
| XR_247198.1:n.1014+143_1014+144insCTTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_949903.1:n.1014+143_1014+144insCTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_005273976.2:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | XP_005274033.1:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_017017669.2:c.-100+143_-100+144insCTTTTTTTTTTTTTTTTTTTTTTT | XP_016873158.1:n.-100+143_-100+144insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_017017670.2:c.-100+143_-100+144insCTTTTTTTTTTTTTTTTTTTTTTT | XP_016873159.1:n.-100+143_-100+144insCTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_017017671.2:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | XP_016873160.1:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT | |
| XR_949903.3:n.1010+143_1010+144insCTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_002180.3:c.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_002171.2:n.912+143_912+144insCTTTTTTTTTTTTTTTTTTTTTTT |