Linked Data
dbSNP Id:
rs1210274463
MyVariant Identifiers:
chr16:g.72094059_72094060insTGGACACCTGGA (hg19)
chr16:g.72060160_72060161insTGGACACCTGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72060163_72060174dup , CM000678.2:g.72060163_72060174dup | GRCh38 |
| NC_000016.9:g.72094062_72094073dup , CM000678.1:g.72094062_72094073dup | GRCh37 |
| NC_000016.8:g.70651563_70651574dup | NCBI36 |
| NG_012651.1:g.10555_10566dup | |
| NG_030311.1:g.1938_1949dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355906.10:c.494_505dup (HP) MANE Select | ENSP00000348170.5:p.Asp168_Ala169insGlyHisLeuAsp | |
| ENST00000228226.12:c.119_130dup (HP) | ENSP00000228226.9:p.Asp43_Ala44insGlyHisLeuAsp | |
| ENST00000355906.9:c.494_505dup (HP) | ENSP00000348170.5:p.Asp168_Ala169insGlyHisLeuAsp | |
| ENST00000357763.8:c.602_613dup (HP) | ENSP00000350406.5:p.Asp204_Ala205insGlyHisLeuAsp | |
| ENST00000398131.6:c.317_328dup (HP) | ENSP00000381199.2:p.Asp109_Ala110insGlyHisLeuAsp | |
| ENST00000562153.5:c.285-15815_285-15804dup (TXNL4B) | ENSP00000454635.1:n.285-15815_285-15804dup | |
| ENST00000562526.5:c.266-500_266-489dup (HP) | ENSP00000454413.1:n.266-500_266-489dup | |
| ENST00000564499.5:c.266-69_266-58dup (HP) | ENSP00000456503.1:n.266-69_266-58dup | |
| ENST00000565574.5:c.317_328dup (HP) | ENSP00000454966.1:p.Asp109_Ala110insGlyHisLeuAsp | |
| ENST00000566821.1:n.2133_2144dup (HP) | ||
| ENST00000567185.7:c.486_497dup (HP) | ||
| ENST00000567612.2:c.438-69_438-58dup (HP) | ||
| ENST00000570083.5:c.317_328dup (HP) | ENSP00000457629.1:p.Asp109_Ala110insGlyHisLeuAsp | |
| ENST00000613898.1:c.119_130dup (HP) | ENSP00000478279.1:p.Asp43_Ala44insGlyHisLeuAsp | |
| NM_001126102.1:c.317_328dup (HP) | NP_001119574.1:p.Asp109_Ala110insGlyHisLeuAsp | |
| NM_005143.3:c.494_505dup (HP) | NP_005134.1:p.Asp168_Ala169insGlyHisLeuAsp | |
| XM_005255922.3:c.317_328dup (HP) | XP_005255979.2:p.Asp109_Ala110insGlyHisLeuAsp | |
| NM_001126102.2:c.317_328dup (HP) | NP_001119574.1:p.Asp109_Ala110insGlyHisLeuAsp | |
| NM_001318138.1:c.317_328dup (HP) | NP_001305067.1:p.Asp109_Ala110insGlyHisLeuAsp | |
| NM_005143.4:c.494_505dup (HP) | NP_005134.1:p.Asp168_Ala169insGlyHisLeuAsp | |
| XM_017023377.2:c.285-15815_285-15804dup (TXNL4B) | XP_016878866.1:n.285-15815_285-15804dup | |
| NM_001318138.2:c.317_328dup (HP) | NP_001305067.1:p.Asp109_Ala110insGlyHisLeuAsp | |
| NM_005143.5:c.494_505dup (HP) MANE Select | NP_005134.1:p.Asp168_Ala169insGlyHisLeuAsp | |
| NM_001126102.3:c.317_328dup (HP) | NP_001119574.1:p.Asp109_Ala110insGlyHisLeuAsp |