Linked Data
ClinVar Variation Id:
208387
ClinVar RCV Id:
RCV000202327
dbSNP Id:
rs863223349
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.172504162_172504164del , CM000664.2:g.172504162_172504164del | GRCh38 |
| NC_000002.11:g.173368890_173368892del , CM000664.1:g.173368890_173368892del | GRCh37 |
| NC_000002.10:g.173077136_173077138del | NCBI36 |
| NG_008853.1:g.81577_81579del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264107.12:c.*94_*96del (ITGA6) | ENSP00000264107.8:n.*94_*96del | |
| ENST00000442250.6:c.3303_3305del (ITGA6) MANE Plus Clinical | ENSP00000406694.1:p.Glu1102del | |
| ENST00000684293.1:c.*94_*96del (ITGA6) MANE Select | ENSP00000508249.1:n.*94_*96del | |
| ENST00000409080.6:c.3186_3188del (ITGA6) | ENSP00000386896.1:p.Glu1063del | |
| ENST00000264107.11:c.*94_*96del (ITGA6) | ENSP00000264107.7:n.*94_*96del | |
| ENST00000409080.5:c.3186_3188del (ITGA6) | ENSP00000386896.1:p.Glu1063del | |
| ENST00000409532.5:c.*94_*96del (ITGA6) | ENSP00000386614.1:n.*94_*96del | |
| ENST00000416789.1:c.687_689del (ITGA6) | ENSP00000388435.1:p.Glu230del | |
| ENST00000442250.5:c.3303_3305del (ITGA6) | ENSP00000406694.1:p.Glu1102del | |
| ENST00000458358.5:c.3171_3173del (ITGA6) | ENSP00000394169.1:p.Glu1058del | |
| NM_000210.2:c.*94_*96del (ITGA6) | NP_000201.2:n.*94_*96del | |
| NM_000210.3:c.*94_*96del (ITGA6) | NP_000201.2:n.*94_*96del | |
| NM_001079818.1:c.3186_3188del (ITGA6) | NP_001073286.1:p.Glu1063del | |
| NM_001079818.2:c.3186_3188del (ITGA6) | NP_001073286.1:p.Glu1063del | |
| NM_001316306.1:c.*94_*96del (ITGA6) | NP_001303235.1:n.*94_*96del | |
| XM_006712510.1:c.3141_3143del (ITGA6) | XP_006712573.1:p.Glu1048del | |
| XM_006712511.1:c.*94_*96del (ITGA6) | XP_006712574.1:n.*94_*96del | |
| NM_001365529.1:c.3141_3143del (ITGA6) | NP_001352458.1:p.Glu1048del | |
| NM_001365530.1:c.*94_*96del (ITGA6) | NP_001352459.1:n.*94_*96del | |
| XM_017004005.1:c.2844_2846del (ITGA6) | XP_016859494.1:p.Glu949del | |
| XM_017004006.1:c.2799_2801del (ITGA6) | XP_016859495.1:p.Glu934del | |
| XM_017004007.1:c.*94_*96del (ITGA6) | XP_016859496.1:n.*94_*96del | |
| XM_017004008.1:c.*94_*96del (ITGA6) | XP_016859497.1:n.*94_*96del | |
| XR_001739781.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739782.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739783.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739784.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739785.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739786.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739787.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739788.1:n.268-7934_268-7932del (ITGA6-AS1) | ||
| XR_001739789.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739790.1:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739791.2:n.267+8174_267+8176del (ITGA6-AS1) | ||
| XR_001739792.2:n.267+8174_267+8176del (ITGA6-AS1) | ||
| NM_001079818.3:c.3186_3188del (ITGA6) | NP_001073286.1:p.Glu1063del | |
| NM_000210.4:c.*94_*96del (ITGA6) MANE Select | NP_000201.2:n.*94_*96del | |
| NM_001316306.2:c.*94_*96del (ITGA6) | NP_001303235.1:n.*94_*96del | |
| NM_001365529.2:c.3141_3143del (ITGA6) | NP_001352458.1:p.Glu1048del | |
| NM_001365530.2:c.*94_*96del (ITGA6) | NP_001352459.1:n.*94_*96del | |
| NM_001394928.1:c.3303_3305del (ITGA6) MANE Plus Clinical | NP_001381857.1:p.Glu1102del |