Linked Data
gnomAD v4:
17-63947015-G-GCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947017_63947018dup , CM000679.2:g.63947017_63947018dup | GRCh38 |
| NC_000017.10:g.62024377_62024378dup , CM000679.1:g.62024377_62024378dup | GRCh37 |
| NC_000017.9:g.59378109_59378110dup | NCBI36 |
| NG_011699.1:g.30902_30903dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3441+28_3441+29dup MANE Select | ENSP00000396320.1:n.3441+28_3441+29dup | |
| ENST00000578147.5:c.3441+28_3441+29dup | ENSP00000463963.1:n.3441+28_3441+29dup | |
| NM_000334.4:c.3441+28_3441+29dup MANE Select | NP_000325.4:n.3441+28_3441+29dup | |
| XM_005257566.3:c.3441+28_3441+29dup | XP_005257623.1:n.3441+28_3441+29dup |