Linked Data
gnomAD v4:
1-53196662-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196663dup , CM000663.2:g.53196663dup | GRCh38 |
| NC_000001.10:g.53662335dup , CM000663.1:g.53662335dup | GRCh37 |
| NC_000001.9:g.53434923dup | NCBI36 |
| NG_008035.1:g.5235dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-281dup | ENSP00000360541.3:n.-281dup | |
| NM_000098.2:c.-281dup | NP_000089.1:n.-281dup | |
| NM_001330589.1:c.-281dup | NP_001317518.1:n.-281dup |