Linked Data
dbSNP Id:
rs1295465598
gnomAD v2:
12-69140251-AACAAATGGATTTATGTGT-A
gnomAD v4:
12-68746471-AACAAATGGATTTATGTGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68746474_68746491del , CM000674.2:g.68746474_68746491del | GRCh38 |
| NC_000012.11:g.69140254_69140271del , CM000674.1:g.69140254_69140271del | GRCh37 |
| NC_000012.10:g.67426521_67426538del | NCBI36 |
| NG_046600.2:g.64524_64541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319429.7:n.340_357del | ||
| ENST00000398004.4:c.97_114del MANE Select | ENSP00000381089.2:p.Lys33_Tyr38del | |
| ENST00000673712.1:c.97_114del | ENSP00000501065.1:p.Lys33_Tyr38del | |
| ENST00000674096.1:c.97_114del | ENSP00000501130.1:p.Lys33_Tyr38del | |
| ENST00000398004.3:c.97_114del | ENSP00000381089.2:p.Lys33_Tyr38del | |
| NM_018656.2:c.97_114del | NP_061126.2:p.Lys33_Tyr38del | |
| XM_005269006.2:c.97_114del | XP_005269063.1:p.Lys33_Tyr38del | |
| NM_001354997.1:c.97_114del | NP_001341926.1:p.Lys33_Tyr38del | |
| NM_001354998.1:c.97_114del | NP_001341927.1:p.Lys33_Tyr38del | |
| NM_018656.3:c.97_114del | NP_061126.2:p.Lys33_Tyr38del | |
| NR_149143.1:n.389_406del | ||
| NR_149144.1:n.389_406del | ||
| NM_001354997.3:c.97_114del | NP_001341926.1:p.Lys33_Tyr38del | |
| NM_001354998.2:c.97_114del | NP_001341927.1:p.Lys33_Tyr38del | |
| NM_018656.5:c.97_114del MANE Select | NP_061126.2:p.Lys33_Tyr38del | |
| NR_149143.3:n.299_316del | ||
| NR_149144.3:n.299_316del |