Linked Data
gnomAD v4:
2-188989528-ATCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188989529_188989532del , CM000664.2:g.188989529_188989532del | GRCh38 |
| NC_000002.11:g.189854255_189854258del , CM000664.1:g.189854255_189854258del | GRCh37 |
| NC_000002.10:g.189562500_189562503del | NCBI36 |
| NG_007404.1:g.20157_20160del , LRG_3:g.20157_20160del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.690+80_690+83del | ENSP00000415346.2:n.690+80_690+83del | |
| ENST00000304636.9:c.690+80_690+83del MANE Select | ENSP00000304408.4:n.690+80_690+83del | |
| ENST00000304636.7:c.690+80_690+83del | ENSP00000304408.3:n.690+80_690+83del | |
| ENST00000317840.9:c.690+80_690+83del | ENSP00000315243.6:n.690+80_690+83del | |
| NM_000090.3:c.690+80_690+83del , LRG_3t1:c.690+80_690+83del | NP_000081.1:n.690+80_690+83del | |
| NM_000090.4:c.690+80_690+83del MANE Select | NP_000081.2:n.690+80_690+83del |