Linked Data
gnomAD v4:
13-48364949-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48364951del , CM000675.2:g.48364951del | GRCh38 |
| NC_000013.10:g.48939087del , CM000675.1:g.48939087del | GRCh37 |
| NC_000013.9:g.47837088del | NCBI36 |
| NG_009009.1:g.66205del , LRG_517:g.66205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.919del MANE Select | ENSP00000267163.4:p.Thr307HisfsTer25 | |
| ENST00000650461.1:c.919del | ENSP00000497193.1:p.Thr307HisfsTer25 | |
| ENST00000267163.4:c.919del | ENSP00000267163.4:p.Thr307HisfsTer25 | |
| NM_000321.2:c.919del , LRG_517t1:c.919del | NP_000312.2:p.Thr307HisfsTer25 | |
| XM_011535171.1:c.658del | XP_011533473.1:p.Thr220HisfsTer25 | |
| XM_011535171.2:c.658del | XP_011533473.1:p.Thr220HisfsTer25 | |
| XR_002957522.1:n.148del | ||
| NM_000321.3:c.919del MANE Select | NP_000312.2:p.Thr307HisfsTer25 |