Linked Data
gnomAD v4:
4-40354463-GATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354464_40354466del , CM000666.2:g.40354464_40354466del | GRCh38 |
| NC_000004.11:g.40356481_40356483del , CM000666.1:g.40356481_40356483del | GRCh37 |
| NC_000004.10:g.40051238_40051240del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1384_1386del MANE Select | ENSP00000312663.2:p.Ile462del | |
| ENST00000310169.2:c.1384_1386del | ENSP00000312663.2:p.Ile462del | |
| NM_017581.3:c.1384_1386del | NP_060051.2:p.Ile462del | |
| NM_017581.4:c.1384_1386del MANE Select | NP_060051.2:p.Ile462del |