Linked Data
dbSNP Id:
rs1435584484
gnomAD v2:
17-44270258-C-CA
gnomAD v3:
17-46192892-C-CA
gnomAD v4:
17-46192892-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46192892_46192893insA , CM000679.2:g.46192892_46192893insA | GRCh38 |
| NC_000017.10:g.44270258_44270259insA , CM000679.1:g.44270258_44270259insA | GRCh37 |
| NC_000017.9:g.41626035_41626036insA | NCBI36 |
| NG_032784.1:g.37482_37483insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.-160_-159insT MANE Select | ENSP00000387393.3:n.-160_-159insT | |
| ENST00000571698.2:c.-90+857_-90+858insT | ENSP00000459330.2:n.-90+857_-90+858insT | |
| ENST00000572904.6:c.-89-20661_-89-20660insT | ENSP00000461484.1:n.-89-20661_-89-20660insT | |
| ENST00000574590.6:c.-89-20661_-89-20660insT | ENSP00000461812.2:n.-89-20661_-89-20660insT | |
| ENST00000574655.6:n.166-20661_166-20660insT | ||
| ENST00000575318.6:c.-89-20661_-89-20660insT | ENSP00000461299.1:n.-89-20661_-89-20660insT | |
| ENST00000576739.2:c.-89-20661_-89-20660insT | ENSP00000459627.1:n.-89-20661_-89-20660insT | |
| ENST00000638269.1:n.156-20661_156-20660insT | ||
| ENST00000638275.1:c.-160_-159insT | ENSP00000492576.1:n.-160_-159insT | |
| ENST00000638902.1:n.16-20661_16-20660insT | ||
| ENST00000639099.1:n.162-20661_162-20660insT | ||
| ENST00000639150.1:c.23+30778_23+30779insT | ENSP00000491906.1:n.23+30778_23+30779insT | |
| ENST00000639356.1:n.162-20661_162-20660insT | ||
| ENST00000639375.1:n.150-20661_150-20660insT | ||
| ENST00000648792.1:c.-89-20661_-89-20660insT | ENSP00000497628.1:n.-89-20661_-89-20660insT | |
| ENST00000432791.5:c.-89-20661_-89-20660insT | ENSP00000387393.2:n.-89-20661_-89-20660insT | |
| ENST00000571698.1:c.-90+857_-90+858insT | ENSP00000459330.1:n.-90+857_-90+858insT | |
| ENST00000572904.5:c.-160_-159insT | ENSP00000461484.1:n.-160_-159insT | |
| ENST00000574590.5:c.-89-20661_-89-20660insT | ENSP00000461812.1:n.-89-20661_-89-20660insT | |
| ENST00000574655.5:c.-89-20661_-89-20660insT | ENSP00000459359.1:n.-89-20661_-89-20660insT | |
| ENST00000576739.1:c.-89-20661_-89-20660insT | ENSP00000459627.1:n.-89-20661_-89-20660insT | |
| NM_001193465.1:c.-89-20661_-89-20660insT | NP_001180394.1:n.-89-20661_-89-20660insT | |
| NM_015443.3:c.-160_-159insT | NP_056258.1:n.-160_-159insT | |
| XM_006721823.1:c.-89-20661_-89-20660insT | XP_006721886.1:n.-89-20661_-89-20660insT | |
| XM_006721824.2:c.-89-20661_-89-20660insT | XP_006721887.1:n.-89-20661_-89-20660insT | |
| XM_011524628.1:c.-89-20661_-89-20660insT | XP_011522930.1:n.-89-20661_-89-20660insT | |
| XM_011524629.1:c.-89-20661_-89-20660insT | XP_011522931.1:n.-89-20661_-89-20660insT | |
| XM_011524630.1:c.-89-20661_-89-20660insT | XP_011522932.1:n.-89-20661_-89-20660insT | |
| XM_011524631.1:c.-89-20661_-89-20660insT | XP_011522933.1:n.-89-20661_-89-20660insT | |
| XM_006721823.2:c.-89-20661_-89-20660insT | XP_006721886.1:n.-89-20661_-89-20660insT | |
| XM_006721824.4:c.-89-20661_-89-20660insT | XP_006721887.1:n.-89-20661_-89-20660insT | |
| XM_011524628.3:c.-89-20661_-89-20660insT | XP_011522930.1:n.-89-20661_-89-20660insT | |
| XM_011524629.3:c.-89-20661_-89-20660insT | XP_011522931.1:n.-89-20661_-89-20660insT | |
| XM_011524630.3:c.-89-20661_-89-20660insT | XP_011522932.1:n.-89-20661_-89-20660insT | |
| XM_011524631.3:c.-89-20661_-89-20660insT | XP_011522933.1:n.-89-20661_-89-20660insT | |
| XM_017024488.2:c.-89-20661_-89-20660insT | XP_016879977.1:n.-89-20661_-89-20660insT | |
| XM_017024489.1:c.-160_-159insT | XP_016879978.1:n.-160_-159insT | |
| NM_015443.4:c.-160_-159insT MANE Select | NP_056258.1:n.-160_-159insT | |
| NM_001193465.2:c.-89-20661_-89-20660insT | NP_001180394.1:n.-89-20661_-89-20660insT | |
| NM_001379198.1:c.-89-20661_-89-20660insT | NP_001366127.1:n.-89-20661_-89-20660insT |