Linked Data
ClinVar Variation Id:
133997
ClinVar RCV Id:
RCV000120666
dbSNP Id:
rs554645676
gnomAD v2:
6-139204006-AAGGTAAATG-A
gnomAD v3:
6-138882869-AAGGTAAATG-A
gnomAD v4:
6-138882869-AAGGTAAATG-A
COSMIC:
COSM5351259
MyVariant Identifiers:
chr6:g.139204007_139204015del (hg19)
chr6:g.138882871_138882879del (hg38)
chr6:g.138882870_138882878del (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138882872_138882880del , CM000668.2:g.138882872_138882880del | GRCh38 |
| NC_000006.11:g.139204009_139204017del , CM000668.1:g.139204009_139204017del | GRCh37 |
| NC_000006.10:g.139245702_139245710del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541398.7:c.2028+1_2028+9del | ||
| ENST00000367682.6:c.2028+1_2028+9del | ||
| ENST00000423192.5:c.2028+1_2028+9del | ||
| ENST00000541398.5:c.2028+1_2028+9del | ||
| NM_001077706.2:c.2028+1_2028+9del | ||
| NM_001195037.2:c.2028+1_2028+9del | ||
| XM_006715472.2:c.2154+1_2154+9del | ||
| XM_011535795.1:c.2154+1_2154+9del | ||
| XM_011535796.1:c.2079+1_2079+9del | ||
| XM_011535797.1:c.1947+1_1947+9del | ||
| XM_006715472.3:c.2154+1_2154+9del | ||
| XM_011535795.2:c.2154+1_2154+9del | ||
| XM_011535797.2:c.1947+1_1947+9del | ||
| XM_017010828.1:c.2154+1_2154+9del | ||
| XM_017010829.1:c.2061+1_2061+9del | ||
| NM_001077706.3:c.2028+1_2028+9del |