Linked Data
gnomAD v4:
6-24174761-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24174763del , CM000668.2:g.24174763del | GRCh38 |
| NC_000006.11:g.24174991del , CM000668.1:g.24174991del | GRCh37 |
| NC_000006.10:g.24282970del | NCBI36 |
| NG_012829.1:g.188291del | |
| NG_012829.2:g.213531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1399del MANE Select | ENSP00000367715.3:p.Gln467AsnfsTer? | |
| ENST00000378450.6:c.658del | ENSP00000367711.3:p.Gln220AsnfsTer? | |
| ENST00000378454.7:c.1399del | ENSP00000367715.3:p.Gln467AsnfsTer? | |
| NM_001195610.1:c.1399del | NP_001182539.1:p.Gln467AsnfsTer? | |
| NM_016356.4:c.1399del | NP_057440.2:p.Gln467AsnfsTer? | |
| NM_016356.5:c.1399del MANE Select | NP_057440.2:p.Gln467AsnfsTer? | |
| NM_001195610.2:c.1399del | NP_001182539.1:p.Gln467AsnfsTer? |