Linked Data
ClinVar Variation Id:
50634
dbSNP Id:
rs9332736
gnomAD v2:
6-31902065-ATGGTGGACAGGGTCAGGAATCAGGAGTC-A
gnomAD v3:
6-31934288-ATGGTGGACAGGGTCAGGAATCAGGAGTC-A
gnomAD v4:
6-31934288-ATGGTGGACAGGGTCAGGAATCAGGAGTC-A
COSMIC:
COSM6471109
MyVariant Identifiers:
chr6:g.31902068_31902095del (hg19)
chr6:g.31902066_31902093del (hg19)
chr6:g.31934291_31934318del (hg38)
chr6:g.31934289_31934316del (hg38)
PubMed:
PMID:1577763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31934291_31934318del , CM000668.2:g.31934291_31934318del | GRCh38 |
| NC_000006.11:g.31902068_31902095del , CM000668.1:g.31902068_31902095del | GRCh37 |
| NC_000006.10:g.32010047_32010074del | NCBI36 |
| NG_011730.1:g.11803_11830del , LRG_26:g.11803_11830del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000447952.7:c.655_663+19del | ||
| ENST00000452323.7:c.346+326_346+353del | ENSP00000392322.2:n.346+326_346+353del | |
| ENST00000468407.2:c.841_849+19del | ||
| ENST00000497706.6:c.210+326_210+353del | ENSP00000417482.2:n.210+326_210+353del | |
| ENST00000695637.1:c.436_444+19del | ||
| ENST00000695638.1:c.841_849+19del | ||
| ENST00000695644.1:c.445_453+19del | ||
| ENST00000299367.10:c.841_849+19del | ||
| ENST00000299367.9:c.841_849+19del | ||
| ENST00000383177.7:c.309+326_309+353del | ||
| ENST00000411571.6:c.*81_*89+19del | ||
| ENST00000418949.6:c.841_868del | ENSP00000406190.2:p.Val281ProfsTer? | |
| ENST00000442278.6:c.445_453+19del | ||
| ENST00000452323.6:c.346+326_346+353del | ENSP00000392322.2:n.346+326_346+353del | |
| ENST00000456570.5:c.529+326_529+353del | ENSP00000410815.1:n.529+326_529+353del | |
| ENST00000469372.5:c.111+508_111+535del | ENSP00000418923.1:n.111+508_111+535del | |
| ENST00000477310.1:c.443-3028_443-3001del | ENSP00000418996.1:n.443-3028_443-3001del | |
| ENST00000482060.5:c.*554_*562+19del | ||
| ENST00000484636.1:c.*81_*89+19del | ||
| ENST00000485690.5:c.9_17+19del | ||
| ENST00000497706.5:c.210+326_210+353del | ENSP00000417482.1:n.210+326_210+353del | |
| NM_000063.5:c.841_849+19del | ||
| NM_001145903.2:c.445_453+19del | ||
| NM_001178063.2:c.346+326_346+353del | NP_001171534.1:n.346+326_346+353del | |
| NM_001282457.1:c.111+508_111+535del | NP_001269386.1:n.111+508_111+535del | |
| NM_001282458.1:c.754_762+19del | ||
| NM_001282459.1:c.841_868del | NP_001269388.1:p.Val281ProfsTer? | |
| NM_000063.6:c.841_849+19del | ||
| NM_001145903.3:c.445_453+19del | ||
| NM_001282457.2:c.111+508_111+535del | NP_001269386.1:n.111+508_111+535del | |
| NM_001282458.2:c.754_762+19del | ||
| NM_001282459.2:c.841_868del | NP_001269388.1:p.Val281ProfsTer? | |
| NM_001178063.3:c.346+326_346+353del | NP_001171534.1:n.346+326_346+353del |