Linked Data
dbSNP Id:
rs2080105003
gnomAD v3:
16-75479147-T-TGCCCAGCACGATGCCGTTGTC
gnomAD v4:
16-75479147-T-TGCCCAGCACGATGCCGTTGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479148_75479168dup , CM000678.2:g.75479148_75479168dup | GRCh38 |
| NC_000016.9:g.75513046_75513066dup , CM000678.1:g.75513046_75513066dup | GRCh37 |
| NC_000016.8:g.74070547_74070567dup | NCBI36 |
| NG_016442.1:g.20861_20881dup | |
| NG_016442.2:g.21274_21294dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.661_681dup MANE Select | ENSP00000328983.4:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| ENST00000390664.3:c.661_681dup | ENSP00000375079.2:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| ENST00000649341.1:c.661_681dup | ENSP00000497635.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| ENST00000649824.1:c.661_681dup | ENSP00000496806.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| ENST00000332272.8:c.661_681dup | ENSP00000328983.4:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| ENST00000390664.2:c.661_681dup | ENSP00000375079.2:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| NM_021615.4:c.661_681dup | NP_067628.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| XM_005255955.3:c.661_681dup | XP_005256012.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| XM_011523085.1:c.661_681dup | XP_011521387.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| NM_021615.5:c.661_681dup MANE Select | NP_067628.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| XM_005255955.5:c.661_681dup | XP_005256012.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| XM_011523085.3:c.661_681dup | XP_011521387.1:p.Gly227_Thr228insAspAsnGlyIleValLeuGly | |
| NR_163480.1:n.733+2649_733+2669dup | ||
| NR_163481.1:n.577+2649_577+2669dup |