Linked Data
dbSNP Id:
rs776009236
ExAC:
7:128483661 CG / C
gnomAD v2:
7-128483661-CG-C
gnomAD v4:
7-128843607-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843609del , CM000669.2:g.128843609del | GRCh38 |
| NC_000007.13:g.128483663del , CM000669.1:g.128483663del | GRCh37 |
| NC_000007.12:g.128270899del | NCBI36 |
| NG_011807.1:g.18181del , LRG_870:g.18181del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2811+32del MANE Select | ENSP00000327145.8:n.2811+32del | |
| ENST00000325888.12:c.2811+32del | ENSP00000327145.8:n.2811+32del | |
| ENST00000346177.6:c.2811+32del | ENSP00000344002.6:n.2811+32del | |
| NM_001127487.1:c.2811+32del | NP_001120959.1:n.2811+32del | |
| NM_001458.4:c.2811+32del , LRG_870t1:c.2811+32del | NP_001449.3:n.2811+32del | |
| NM_001127487.2:c.2811+32del | NP_001120959.1:n.2811+32del | |
| NM_001458.5:c.2811+32del MANE Select | NP_001449.3:n.2811+32del |