Linked Data
gnomAD v4:
2-72891663-GCCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891664_72891667del , CM000664.2:g.72891664_72891667del | GRCh38 |
| NC_000002.11:g.73118793_73118796del , CM000664.1:g.73118793_73118796del | GRCh37 |
| NC_000002.10:g.72972301_72972304del | NCBI36 |
| NG_008234.1:g.9282_9285del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*127_*130del MANE Select | ENSP00000234454.5:n.*127_*130del | |
| ENST00000234454.5:c.*127_*130del | ENSP00000234454.5:n.*127_*130del | |
| ENST00000498749.1:n.858_861del | ||
| NM_003124.4:c.*127_*130del | NP_003115.1:n.*127_*130del | |
| NM_003124.5:c.*127_*130del MANE Select | NP_003115.1:n.*127_*130del |