Linked Data
ClinVar Variation Id:
225372
ClinVar RCV Id:
RCV000490409
dbSNP Id:
rs1085307067
gnomAD v2:
6-10556912-TTATC-T
gnomAD v4:
6-10556679-TTATC-T
MyVariant Identifiers:
chr6:g.10556915_10556918del (hg19)
chr6:g.10556913_10556916del (hg19)
chr6:g.10556682_10556685del (hg38)
chr6:g.10556680_10556683del (hg38)
PubMed:
PMID:12424189
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10556682_10556685del , CM000668.2:g.10556682_10556685del | GRCh38 |
| NC_000006.11:g.10556915_10556918del , CM000668.1:g.10556915_10556918del | GRCh37 |
| NC_000006.10:g.10664901_10664904del | NCBI36 |
| NG_007469.3:g.69460_69463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316170.9:c.259_262del MANE Plus Clinical | ENSP00000314844.3:p.Ser87ArgfsTer11 | |
| ENST00000397423.7:n.484+27841_484+27844del | ||
| ENST00000495262.7:c.925+26846_925+26849del MANE Select | ENSP00000419411.2:n.925+26846_925+26849del | |
| ENST00000640968.1:c.259_262del | ENSP00000492466.1:p.Ser87ArgfsTer11 | |
| ENST00000316170.7:c.259_262del | ENSP00000314844.3:p.Ser87ArgfsTer11 | |
| ENST00000379597.7:c.925+26846_925+26849del | ENSP00000368917.3:n.925+26846_925+26849del | |
| ENST00000397423.6:n.484+27841_484+27844del | ||
| ENST00000410107.5:c.67+47524_67+47527del | ENSP00000386321.1:n.67+47524_67+47527del | |
| ENST00000461400.1:n.25+26846_25+26849del | ||
| ENST00000474518.1:n.508+27841_508+27844del | ||
| ENST00000475577.5:n.254+29022_254+29025del | ||
| ENST00000485764.1:n.40+26846_40+26849del | ||
| ENST00000489225.5:n.283+63751_283+63754del | ||
| ENST00000489819.5:n.175+35088_175+35091del | ||
| ENST00000495262.5:c.925+26846_925+26849del | ENSP00000419411.1:n.925+26846_925+26849del | |
| NM_001491.2:c.259_262del | NP_001482.1:p.Ser87ArgfsTer11 | |
| NM_145649.4:c.925+26846_925+26849del | NP_663624.1:n.925+26846_925+26849del | |
| XM_005248997.2:c.259_262del | XP_005249054.1:p.Ser87ArgfsTer11 | |
| XM_005248999.2:c.694+26846_694+26849del | XP_005249056.1:n.694+26846_694+26849del | |
| XM_006715052.2:c.925+26846_925+26849del | XP_006715115.1:n.925+26846_925+26849del | |
| XM_011514465.1:c.926-16448_926-16445del | XP_011512767.1:n.926-16448_926-16445del | |
| XM_011514467.1:c.694+26846_694+26849del | XP_011512769.1:n.694+26846_694+26849del | |
| XR_926136.1:n.1476+26846_1476+26849del | ||
| XM_005248997.3:c.259_262del | XP_005249054.1:p.Ser87ArgfsTer11 | |
| XM_006715052.3:c.925+26846_925+26849del | XP_006715115.1:n.925+26846_925+26849del | |
| XR_002956275.1:n.1476+26846_1476+26849del | ||
| XR_926136.2:n.1474+26846_1474+26849del | ||
| NM_001374747.1:c.925+26846_925+26849del | NP_001361676.1:n.925+26846_925+26849del | |
| NM_001491.3:c.259_262del MANE Plus Clinical | NP_001482.1:p.Ser87ArgfsTer11 | |
| NM_145649.5:c.925+26846_925+26849del MANE Select | NP_663624.1:n.925+26846_925+26849del |