Linked Data
gnomAD v4:
17-63947245-T-TGTGAGTCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63947246_63947247insTGAGTCCAG , CM000679.2:g.63947246_63947247insTGAGTCCAG | GRCh38 |
| NC_000017.10:g.62024606_62024607insTGAGTCCAG , CM000679.1:g.62024606_62024607insTGAGTCCAG | GRCh37 |
| NC_000017.9:g.59378338_59378339insTGAGTCCAG | NCBI36 |
| NG_011699.1:g.30673_30674insTGGACTCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3319-79_3319-78insTGGACTCAC MANE Select | ENSP00000396320.1:n.3319-79_3319-78insTGGACTCAC | |
| ENST00000578147.5:c.3319-79_3319-78insTGGACTCAC | ENSP00000463963.1:n.3319-79_3319-78insTGGACTCAC | |
| NM_000334.4:c.3319-79_3319-78insTGGACTCAC MANE Select | NP_000325.4:n.3319-79_3319-78insTGGACTCAC | |
| XM_005257566.3:c.3319-79_3319-78insTGGACTCAC | XP_005257623.1:n.3319-79_3319-78insTGGACTCAC |