Linked Data
dbSNP Id:
rs774415210
ExAC:
11:68701412 TG / T
gnomAD v2:
11-68701412-TG-T
gnomAD v3:
11-68933944-TG-T
gnomAD v4:
11-68933944-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933945del , CM000673.2:g.68933945del | GRCh38 |
| NC_000011.9:g.68701413del , CM000673.1:g.68701413del | GRCh37 |
| NC_000011.8:g.68457989del | NCBI36 |
| NG_007976.1:g.35095del , LRG_250:g.35095del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1537+32del MANE Select | ENSP00000255078.4:n.1537+32del | |
| ENST00000674955.1:c.*254+32del | ENSP00000502463.1:n.*254+32del | |
| ENST00000675118.1:c.1025+32del | ||
| ENST00000675205.1:n.183+464del | ||
| ENST00000675615.1:c.1537+32del | ENSP00000502413.1:n.1537+32del | |
| ENST00000675648.1:n.912+32del | ||
| ENST00000675997.1:n.113-519del | ||
| ENST00000676173.1:n.2282+32del | ||
| ENST00000676228.1:c.*860+32del | ENSP00000502375.1:n.*860+32del | |
| ENST00000255078.7:c.1537+32del | ENSP00000255078.3:n.1537+32del | |
| ENST00000537458.5:n.686del | ||
| ENST00000539064.5:n.1296+32del | ||
| ENST00000541229.5:n.232+32del | ||
| ENST00000543739.5:n.654+32del | ||
| NM_002180.2:c.1537+32del , LRG_250t1:c.1537+32del | NP_002171.2:n.1537+32del | |
| XM_005273974.2:c.526+32del | XP_005274031.1:n.526+32del | |
| XM_005273975.2:c.409+32del | XP_005274032.1:n.409+32del | |
| XM_011544994.1:c.304+32del | XP_011543296.1:n.304+32del | |
| XR_949903.1:n.1639+32del | ||
| XM_005273975.3:c.409+32del | XP_005274032.1:n.409+32del | |
| XM_017017669.2:c.526+32del | XP_016873158.1:n.526+32del | |
| XM_017017670.2:c.526+32del | XP_016873159.1:n.526+32del | |
| XM_017017671.2:c.1537+32del | XP_016873160.1:n.1537+32del | |
| XR_949903.3:n.1635+32del | ||
| NM_002180.3:c.1537+32del MANE Select | NP_002171.2:n.1537+32del |