Linked Data
dbSNP Id:
rs750240125
ExAC:
1:152276737 TC / T
gnomAD v2:
1-152276737-TC-T
gnomAD v4:
1-152304261-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304263del , CM000663.2:g.152304263del | GRCh38 |
| NC_000001.10:g.152276739del , CM000663.1:g.152276739del | GRCh37 |
| NC_000001.9:g.150543363del | NCBI36 |
| NG_016190.1:g.25942del , LRG_1028:g.25942del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10624del MANE Select | ENSP00000357789.1:p.Asp3542ThrfsTer? | |
| ENST00000368799.1:c.10624del | ENSP00000357789.1:p.Asp3542ThrfsTer? | |
| NM_002016.1:c.10624del , LRG_1028t1:c.10624del | NP_002007.1:p.Asp3542ThrfsTer? | |
| XM_011509329.1:c.9109-429del | XP_011507631.1:n.9109-429del | |
| NM_002016.2:c.10624del MANE Select | NP_002007.1:p.Asp3542ThrfsTer? |