Linked Data
ClinVar Variation Id:
418019
dbSNP Id:
rs11345864
ExAC:
6:101215223 TA / T
gnomAD v2:
6-101215223-TA-T
gnomAD v3:
6-100767347-TA-T
gnomAD v4:
6-100767347-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100767357del , CM000668.2:g.100767357del | GRCh38 |
| NC_000006.11:g.101215233del , CM000668.1:g.101215233del | GRCh37 |
| NC_000006.10:g.101321954del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369162.7:c.1396-3del MANE Select | ENSP00000358159.2:n.1396-3del | |
| ENST00000324696.8:c.*1098-3del | ENSP00000320252.4:n.*1098-3del | |
| ENST00000369162.6:c.1396-3del | ENSP00000358159.2:n.1396-3del | |
| ENST00000522650.5:c.1396-3del | ENSP00000430769.1:n.1396-3del | |
| NM_001284271.1:c.1396-3del | NP_001271200.1:n.1396-3del | |
| NM_006828.3:c.1396-3del | NP_006819.2:n.1396-3del | |
| XM_011535394.1:c.1411-3del | XP_011533696.1:n.1411-3del | |
| XM_011535395.1:c.1102-3del | XP_011533697.1:n.1102-3del | |
| XM_011535396.1:c.1102-3del | XP_011533698.1:n.1102-3del | |
| XM_011535394.3:c.1411-3del | XP_011533696.1:n.1411-3del | |
| XM_011535395.3:c.1102-3del | XP_011533697.1:n.1102-3del | |
| XM_011535396.3:c.1102-3del | XP_011533698.1:n.1102-3del | |
| XM_017010205.2:c.1102-3del | XP_016865694.1:n.1102-3del | |
| XM_017010206.2:c.-24-3del | XP_016865695.1:n.-24-3del | |
| XM_024446316.1:c.598-3del | XP_024302084.1:n.598-3del | |
| NM_006828.4:c.1396-3del MANE Select | NP_006819.2:n.1396-3del | |
| NM_001284271.2:c.1396-3del | NP_001271200.1:n.1396-3del |