Linked Data
ClinVar Variation Id:
251615
ClinVar RCV Id:
RCV000237848
dbSNP Id:
rs879254768
MyVariant Identifiers:
chr19:g.11221440_11221447dupATGCGAAG (hg19)
chr19:g.11110764_11110771dupATGCGAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110764_11110771dup , CM000681.2:g.11110764_11110771dup | GRCh38 |
| NC_000019.9:g.11221440_11221447dup , CM000681.1:g.11221440_11221447dup | GRCh37 |
| NC_000019.8:g.11082440_11082447dup | NCBI36 |
| NG_009060.1:g.26384_26391dup , LRG_274:g.26384_26391dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1311_1318dup | ENSP00000252444.6:p.Ile441AlafsTer18 | |
| ENST00000559340.2:c.1053_1060dup | ENSP00000453696.2:p.Ile355AlafsTer18 | |
| ENST00000560467.2:c.941-750_941-743dup | ENSP00000453513.2:n.941-750_941-743dup | |
| ENST00000558518.6:c.1053_1060dup MANE Select | ENSP00000454071.1:p.Ile355AlafsTer18 | |
| ENST00000252444.9:c.1307_1314dup | ||
| ENST00000455727.6:c.549_556dup | ENSP00000397829.2:p.Ile187AlafsTer18 | |
| ENST00000535915.5:c.930_937dup | ENSP00000440520.1:p.Ile314AlafsTer18 | |
| ENST00000545707.5:c.672_679dup | ENSP00000437639.1:p.Ile228AlafsTer18 | |
| ENST00000557933.5:c.1053_1060dup | ENSP00000453557.1:p.Ile355AlafsTer18 | |
| ENST00000558013.5:c.1053_1060dup | ENSP00000453346.1:p.Ile355AlafsTer18 | |
| ENST00000558518.5:c.1053_1060dup | ENSP00000454071.1:p.Ile355AlafsTer18 | |
| ENST00000560173.1:n.52_59dup | ||
| ENST00000560467.1:c.541-750_541-743dup | ||
| NM_000527.4:c.1053_1060dup , LRG_274t1:c.1053_1060dup | NP_000518.1:p.Ile355AlafsTer18 | |
| NM_001195798.1:c.1053_1060dup | NP_001182727.1:p.Ile355AlafsTer18 | |
| NM_001195799.1:c.930_937dup | NP_001182728.1:p.Ile314AlafsTer18 | |
| NM_001195800.1:c.549_556dup | NP_001182729.1:p.Ile187AlafsTer18 | |
| NM_001195803.1:c.672_679dup | NP_001182732.1:p.Ile228AlafsTer18 | |
| XM_011528010.1:c.1053_1060dup | XP_011526312.1:p.Ile355AlafsTer18 | |
| XM_011528011.1:c.672_679dup | XP_011526313.1:p.Ile228AlafsTer18 | |
| XR_244074.2:n.1203_1210dup | ||
| XM_011528010.2:c.1053_1060dup | XP_011526312.1:p.Ile355AlafsTer18 | |
| XR_001753685.2:n.1170_1177dup | ||
| XR_001753686.2:n.1170_1177dup | ||
| NM_000527.5:c.1053_1060dup MANE Select | NP_000518.1:p.Ile355AlafsTer18 | |
| NM_001195798.2:c.1053_1060dup | NP_001182727.1:p.Ile355AlafsTer18 | |
| NM_001195799.2:c.930_937dup | NP_001182728.1:p.Ile314AlafsTer18 | |
| NM_001195800.2:c.549_556dup | NP_001182729.1:p.Ile187AlafsTer18 | |
| NM_001195803.2:c.672_679dup | NP_001182732.1:p.Ile228AlafsTer18 |