Linked Data
dbSNP Id:
rs754382267
ExAC:
1:171621114 CTG / C
gnomAD v2:
1-171621114-CTG-C
gnomAD v4:
1-171651974-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171651975_171651976del , CM000663.2:g.171651975_171651976del | GRCh38 |
| NC_000001.10:g.171621115_171621116del , CM000663.1:g.171621115_171621116del | GRCh37 |
| NC_000001.9:g.169887738_169887739del | NCBI36 |
| NG_008859.1:g.5658_5659del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.604+32_604+33del MANE Select | ENSP00000037502.5:n.604+32_604+33del | |
| ENST00000638471.1:c.130+506_130+507del | ENSP00000491206.1:n.130+506_130+507del | |
| ENST00000037502.10:c.604+32_604+33del | ENSP00000037502.5:n.604+32_604+33del | |
| ENST00000614688.1:c.604+32_604+33del | ENSP00000478680.1:n.604+32_604+33del | |
| NM_000261.1:c.604+32_604+33del | NP_000252.1:n.604+32_604+33del | |
| NM_000261.2:c.604+32_604+33del MANE Select | NP_000252.1:n.604+32_604+33del |