Linked Data
dbSNP Id:
rs1173875810
gnomAD v3:
16-3727998-T-TGGACAGGGGCTGGAGACC
gnomAD v4:
16-3727998-T-TGGACAGGGGCTGGAGACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728000_3728017dup , CM000678.2:g.3728000_3728017dup | GRCh38 |
| NC_000016.9:g.3778001_3778018dup , CM000678.1:g.3778001_3778018dup | GRCh37 |
| NC_000016.8:g.3718002_3718019dup | NCBI36 |
| NG_009873.1:g.157105_157122dup | |
| NG_009873.2:g.157698_157715dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7031_7048dup MANE Select | ENSP00000262367.5:p.Val2349_Gln2350insArgSerProAlaProVal | |
| ENST00000262367.9:c.7031_7048dup | ENSP00000262367.5:p.Val2349_Gln2350insArgSerProAlaProVal | |
| ENST00000382070.7:c.6917_6934dup | ENSP00000371502.3:p.Val2311_Gln2312insArgSerProAlaProVal | |
| NM_001079846.1:c.6917_6934dup | NP_001073315.1:p.Val2311_Gln2312insArgSerProAlaProVal | |
| NM_004380.2:c.7031_7048dup | NP_004371.2:p.Val2349_Gln2350insArgSerProAlaProVal | |
| XM_005255124.3:c.6986_7003dup | XP_005255181.1:p.Val2334_Gln2335insArgSerProAlaProVal | |
| XM_005255125.3:c.6614_6631dup | XP_005255182.1:p.Val2210_Gln2211insArgSerProAlaProVal | |
| XM_006720848.2:c.6770_6787dup | XP_006720911.1:p.Val2262_Gln2263insArgSerProAlaProVal | |
| XM_011522380.1:c.6977_6994dup | XP_011520682.1:p.Val2331_Gln2332insArgSerProAlaProVal | |
| XM_011522381.1:c.6278_6295dup | XP_011520683.1:p.Val2098_Gln2099insArgSerProAlaProVal | |
| XM_005255124.4:c.6986_7003dup | XP_005255181.1:p.Val2334_Gln2335insArgSerProAlaProVal | |
| XM_005255125.4:c.6614_6631dup | XP_005255182.1:p.Val2210_Gln2211insArgSerProAlaProVal | |
| XM_006720848.3:c.6770_6787dup | XP_006720911.1:p.Val2262_Gln2263insArgSerProAlaProVal | |
| XM_011522381.2:c.6278_6295dup | XP_011520683.1:p.Val2098_Gln2099insArgSerProAlaProVal | |
| XM_017022944.1:c.7025_7042dup | XP_016878433.1:p.Val2347_Gln2348insArgSerProAlaProVal | |
| NM_004380.3:c.7031_7048dup MANE Select | NP_004371.2:p.Val2349_Gln2350insArgSerProAlaProVal |