Linked Data
dbSNP Id:
rs1559773511
gnomAD v2:
3-123003464-C-CG
gnomAD v3:
3-123284617-C-CG
gnomAD v4:
3-123284617-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123284622dup , CM000665.2:g.123284622dup | GRCh38 |
| NC_000003.11:g.123003469dup , CM000665.1:g.123003469dup | GRCh37 |
| NC_000003.10:g.124486159dup | NCBI36 |
| NG_033882.1:g.168928dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.2453dup | ENSP00000420082.2:p.Leu819AlafsTer? | |
| ENST00000470367.2:c.2741dup | ENSP00000514541.1:p.Leu915AlafsTer? | |
| ENST00000483566.2:c.2453dup | ENSP00000420252.2:p.Leu819AlafsTer? | |
| ENST00000699714.1:c.2453dup | ENSP00000514539.1:p.Leu819AlafsTer? | |
| ENST00000699715.1:c.2453dup | ENSP00000514540.1:p.Leu819AlafsTer? | |
| ENST00000699716.1:c.2453dup | ENSP00000514542.1:p.Leu819AlafsTer? | |
| ENST00000699717.1:n.2179dup | ||
| ENST00000699718.1:c.3851dup | ENSP00000514543.1:p.Leu1285AlafsTer? | |
| ENST00000462833.6:c.3776dup MANE Select | ENSP00000419361.1:p.Leu1260AlafsTer? | |
| ENST00000309879.9:c.2726dup | ENSP00000308685.5:p.Leu910AlafsTer? | |
| ENST00000462833.5:c.3776dup | ENSP00000419361.1:p.Leu1260AlafsTer? | |
| ENST00000478092.1:n.546dup | ||
| ENST00000491190.5:c.2750dup | ENSP00000418537.1:p.Leu918AlafsTer? | |
| NM_001199642.1:c.2726dup | NP_001186571.1:p.Leu910AlafsTer? | |
| NM_183357.2:c.3776dup | NP_899200.1:p.Leu1260AlafsTer? | |
| XM_005247077.2:c.3851dup | XP_005247134.1:p.Leu1285AlafsTer? | |
| XM_005247078.1:c.2801dup | XP_005247135.1:p.Leu935AlafsTer? | |
| XM_006713483.1:c.2750dup | XP_006713546.1:p.Leu918AlafsTer? | |
| XM_006713484.1:c.2528dup | XP_006713547.1:p.Leu844AlafsTer? | |
| XM_011512359.1:c.2852dup | XP_011510661.1:p.Leu952AlafsTer? | |
| XM_011512360.1:c.2762dup | XP_011510662.1:p.Leu922AlafsTer? | |
| XM_011512361.1:c.2528dup | XP_011510663.1:p.Leu844AlafsTer? | |
| XM_005247077.4:c.3851dup | XP_005247134.1:p.Leu1285AlafsTer? | |
| XM_011512359.2:c.2852dup | XP_011510661.1:p.Leu952AlafsTer? | |
| XM_011512360.3:c.2762dup | XP_011510662.1:p.Leu922AlafsTer? | |
| XM_017005638.1:c.2753dup | XP_016861127.1:p.Leu919AlafsTer? | |
| XM_017005639.1:c.2753dup | XP_016861128.1:p.Leu919AlafsTer? | |
| NM_001378259.1:c.3851dup | NP_001365188.1:p.Leu1285AlafsTer? | |
| NM_183357.3:c.3776dup MANE Select | NP_899200.1:p.Leu1260AlafsTer? |