Linked Data
gnomAD v4:
1-68438096-G-GACTTTATGTATAAACATGAGGCAGGAGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438097_68438125dup , CM000663.2:g.68438097_68438125dup | GRCh38 |
| NC_000001.10:g.68903780_68903808dup , CM000663.1:g.68903780_68903808dup | GRCh37 |
| NC_000001.9:g.68676368_68676396dup | NCBI36 |
| NG_008472.1:g.16835_16863dup | |
| NG_008472.2:g.16835_16863dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1128+62_1128+90dup MANE Select | ENSP00000262340.5:n.1128+62_1128+90dup | |
| ENST00000262340.5:c.1128+62_1128+90dup | ENSP00000262340.5:n.1128+62_1128+90dup | |
| NM_000329.2:c.1128+62_1128+90dup | NP_000320.1:n.1128+62_1128+90dup | |
| XM_017002027.1:c.852+62_852+90dup | XP_016857516.1:n.852+62_852+90dup | |
| NM_000329.3:c.1128+62_1128+90dup MANE Select | NP_000320.1:n.1128+62_1128+90dup |