Linked Data
gnomAD v4:
17-63947002-T-TCCCCCAAACCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947008_63947009insAACCCCCCCCCCCCCA , CM000679.2:g.63947008_63947009insAACCCCCCCCCCCCCA | GRCh38 |
| NC_000017.10:g.62024368_62024369insAACCCCCCCCCCCCCA , CM000679.1:g.62024368_62024369insAACCCCCCCCCCCCCA | GRCh37 |
| NC_000017.9:g.59378100_59378101insAACCCCCCCCCCCCCA | NCBI36 |
| NG_011699.1:g.30916_30917insGGGGGGGGTTTGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3441+42_3441+43insGGGGGGGGTTTGGGGG MANE Select | ENSP00000396320.1:n.3441+42_3441+43insGGGGGGGGTTTGGGGG | |
| ENST00000578147.5:c.3441+42_3441+43insGGGGGGGGTTTGGGGG | ENSP00000463963.1:n.3441+42_3441+43insGGGGGGGGTTTGGGGG | |
| NM_000334.4:c.3441+42_3441+43insGGGGGGGGTTTGGGGG MANE Select | NP_000325.4:n.3441+42_3441+43insGGGGGGGGTTTGGGGG | |
| XM_005257566.3:c.3441+42_3441+43insGGGGGGGGTTTGGGGG | XP_005257623.1:n.3441+42_3441+43insGGGGGGGGTTTGGGGG |