Linked Data
gnomAD v4:
14-28767450-C-CCCGCCGCCGCCCGCCCCGCAACCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767462_28767485dup , CM000676.2:g.28767462_28767485dup | GRCh38 |
| NC_000014.8:g.29236668_29236691dup , CM000676.1:g.29236668_29236691dup | GRCh37 |
| NC_000014.7:g.28306419_28306442dup | NCBI36 |
| NG_009367.1:g.5382_5405dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.183_206dup | ENSP00000516406.1:p.Pro69_Gln70insAlaProGlnProProProProPro | |
| ENST00000313071.7:c.183_206dup MANE Select | ENSP00000339004.3:p.Pro69_Gln70insAlaProGlnProProProProPro | |
| ENST00000313071.6:c.183_206dup | ENSP00000339004.3:p.Pro69_Gln70insAlaProGlnProProProProPro | |
| NM_005249.4:c.183_206dup | NP_005240.3:p.Pro69_Gln70insAlaProGlnProProProProPro | |
| NM_005249.5:c.183_206dup MANE Select | NP_005240.3:p.Pro69_Gln70insAlaProGlnProProProProPro |