Linked Data
ClinVar Variation Id:
251576
ClinVar RCV Id:
RCV000237196
dbSNP Id:
rs879254743
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110679del , CM000681.2:g.11110679del | GRCh38 |
| NC_000019.9:g.11221355del , CM000681.1:g.11221355del | GRCh37 |
| NC_000019.8:g.11082355del | NCBI36 |
| NG_009060.1:g.26299del , LRG_274:g.26299del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1226del | ENSP00000252444.6:p.Gly409AlafsTer? | |
| ENST00000559340.2:c.968del | ENSP00000453696.2:p.Gly323AlafsTer? | |
| ENST00000560467.2:c.941-835del | ENSP00000453513.2:n.941-835del | |
| ENST00000558518.6:c.968del MANE Select | ENSP00000454071.1:p.Gly323AlafsTer? | |
| ENST00000252444.9:c.1222del | ||
| ENST00000455727.6:c.464del | ENSP00000397829.2:p.Gly155AlafsTer? | |
| ENST00000535915.5:c.845del | ENSP00000440520.1:p.Gly282AlafsTer? | |
| ENST00000545707.5:c.587del | ENSP00000437639.1:p.Gly196AlafsTer? | |
| ENST00000557933.5:c.968del | ENSP00000453557.1:p.Gly323AlafsTer? | |
| ENST00000558013.5:c.968del | ENSP00000453346.1:p.Gly323AlafsTer? | |
| ENST00000558518.5:c.968del | ENSP00000454071.1:p.Gly323AlafsTer? | |
| ENST00000560467.1:c.541-835del | ||
| NM_000527.4:c.968del , LRG_274t1:c.968del | NP_000518.1:p.Gly323AlafsTer? | |
| NM_001195798.1:c.968del | NP_001182727.1:p.Gly323AlafsTer? | |
| NM_001195799.1:c.845del | NP_001182728.1:p.Gly282AlafsTer? | |
| NM_001195800.1:c.464del | NP_001182729.1:p.Gly155AlafsTer? | |
| NM_001195803.1:c.587del | NP_001182732.1:p.Gly196AlafsTer? | |
| XM_011528010.1:c.968del | XP_011526312.1:p.Gly323AlafsTer? | |
| XM_011528011.1:c.587del | XP_011526313.1:p.Gly196AlafsTer? | |
| XR_244074.2:n.1118del | ||
| XM_011528010.2:c.968del | XP_011526312.1:p.Gly323AlafsTer? | |
| XR_001753685.2:n.1085del | ||
| XR_001753686.2:n.1085del | ||
| NM_000527.5:c.968del MANE Select | NP_000518.1:p.Gly323AlafsTer? | |
| NM_001195798.2:c.968del | NP_001182727.1:p.Gly323AlafsTer? | |
| NM_001195799.2:c.845del | NP_001182728.1:p.Gly282AlafsTer? | |
| NM_001195800.2:c.464del | NP_001182729.1:p.Gly155AlafsTer? | |
| NM_001195803.2:c.587del | NP_001182732.1:p.Gly196AlafsTer? |