Linked Data
dbSNP Id:
rs71043470
gnomAD v3:
11-68915166-C-CTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
11-68915166-C-CTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68915173_68915196dup , CM000673.2:g.68915173_68915196dup | GRCh38 |
| NC_000011.9:g.68682641_68682664dup , CM000673.1:g.68682641_68682664dup | GRCh37 |
| NC_000011.8:g.68439217_68439240dup | NCBI36 |
| NG_007976.1:g.16323_16346dup , LRG_250:g.16323_16346dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.912+150_912+173dup MANE Select | ENSP00000255078.4:n.912+150_912+173dup | |
| ENST00000539224.2:c.1041+150_1041+173dup | ||
| ENST00000674955.1:c.912+150_912+173dup | ENSP00000502463.1:n.912+150_912+173dup | |
| ENST00000675118.1:c.259+150_259+173dup | ||
| ENST00000675119.1:c.201+150_201+173dup | ENSP00000501861.1:n.201+150_201+173dup | |
| ENST00000675305.1:c.201+150_201+173dup | ENSP00000502365.1:n.201+150_201+173dup | |
| ENST00000675464.1:c.195+156_195+179dup | ENSP00000502650.1:n.195+156_195+179dup | |
| ENST00000675615.1:c.912+150_912+173dup | ENSP00000502413.1:n.912+150_912+173dup | |
| ENST00000675683.1:c.299+150_299+173dup | ||
| ENST00000676173.1:n.956+150_956+173dup | ||
| ENST00000676228.1:c.*235+150_*235+173dup | ENSP00000502375.1:n.*235+150_*235+173dup | |
| ENST00000255078.7:c.912+150_912+173dup | ENSP00000255078.3:n.912+150_912+173dup | |
| NM_002180.2:c.912+150_912+173dup , LRG_250t1:c.912+150_912+173dup | NP_002171.2:n.912+150_912+173dup | |
| XM_005273974.2:c.-100+150_-100+173dup | XP_005274031.1:n.-100+150_-100+173dup | |
| XM_005273976.1:c.912+150_912+173dup | XP_005274033.1:n.912+150_912+173dup | |
| XR_247198.1:n.1014+150_1014+173dup | ||
| XR_949903.1:n.1014+150_1014+173dup | ||
| XM_005273976.2:c.912+150_912+173dup | XP_005274033.1:n.912+150_912+173dup | |
| XM_017017669.2:c.-100+150_-100+173dup | XP_016873158.1:n.-100+150_-100+173dup | |
| XM_017017670.2:c.-100+150_-100+173dup | XP_016873159.1:n.-100+150_-100+173dup | |
| XM_017017671.2:c.912+150_912+173dup | XP_016873160.1:n.912+150_912+173dup | |
| XR_949903.3:n.1010+150_1010+173dup | ||
| NM_002180.3:c.912+150_912+173dup MANE Select | NP_002171.2:n.912+150_912+173dup |