Linked Data
ClinVar Variation Id:
553893
ClinVar RCV Id:
RCV000669429
dbSNP Id:
rs1554160766
MyVariant Identifiers:
chr6:g.73600374dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600374dup , CM000668.2:g.73600374dup | GRCh38 |
| NC_000006.11:g.74310097dup , CM000668.1:g.74310097dup | GRCh37 |
| NC_000006.10:g.74366818dup | NCBI36 |
| NG_008272.1:g.58641dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1327dup MANE Select | ENSP00000348019.5:p.Ile443AsnfsTer3 | |
| ENST00000355773.5:c.1327dup | ENSP00000348019.5:p.Ile443AsnfsTer3 | |
| NM_012434.4:c.1327dup | NP_036566.1:p.Ile443AsnfsTer3 | |
| XM_005248710.2:c.1276dup | XP_005248767.1:p.Ile426AsnfsTer3 | |
| XM_005248711.1:c.1129dup | XP_005248768.1:p.Ile377AsnfsTer3 | |
| XM_011535750.1:c.1179dup | XP_011534052.1:p.Leu394IlefsTer? | |
| NM_012434.5:c.1327dup MANE Select | NP_036566.1:p.Ile443AsnfsTer3 | |
| NM_001382629.1:c.1096dup | NP_001369558.1:p.Ile366AsnfsTer3 | |
| NM_001382630.1:c.1260-5160dup | NP_001369559.1:n.1260-5160dup | |
| NM_001382631.1:c.1348dup | NP_001369560.1:p.Ile450AsnfsTer3 | |
| NM_001382632.1:c.1240dup | NP_001369561.1:p.Ile414AsnfsTer3 | |
| NM_001382633.1:c.1327dup | NP_001369562.1:p.Ile443AsnfsTer3 | |
| NM_001382634.1:c.1168dup | NP_001369563.1:p.Ile390AsnfsTer3 | |
| NM_001382635.1:c.1324dup | NP_001369564.1:p.Ile442AsnfsTer3 | |
| NM_001382636.1:c.1009dup | NP_001369565.1:p.Ile337AsnfsTer3 |