Linked Data
gnomAD v4:
2-102532648-ACCATCACAGGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532653_102532664del , CM000664.2:g.102532653_102532664del | GRCh38 |
| NC_000002.11:g.103149112_103149123del , CM000664.1:g.103149112_103149123del | GRCh37 |
| NC_000002.10:g.102515544_102515555del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295269.5:c.2362_2373del MANE Select | ENSP00000295269.4:p.His788_His791del | |
| ENST00000295269.4:c.2362_2373del | ENSP00000295269.4:p.His788_His791del | |
| NM_001011552.3:c.2362_2373del | NP_001011552.2:p.His788_His791del | |
| XM_011511158.1:c.2275_2286del | XP_011509460.1:p.His759_His762del | |
| NM_001011552.4:c.2362_2373del MANE Select | NP_001011552.2:p.His788_His791del |