Linked Data
dbSNP Id:
rs964430873
gnomAD v2:
11-57378408-CT-C
gnomAD v3:
11-57610935-CT-C
gnomAD v4:
11-57610935-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57610945del , CM000673.2:g.57610945del | GRCh38 |
| NC_000011.9:g.57378418del , CM000673.1:g.57378418del | GRCh37 |
| NC_000011.8:g.57134994del | NCBI36 |
| NG_009625.1:g.18392del , LRG_105:g.18392del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.1030-772del MANE Select | ENSP00000278407.4:n.1030-772del | |
| ENST00000528996.2:c.59-781del | ENSP00000431226.2:n.59-781del | |
| ENST00000531605.2:c.*806-772del | ENSP00000503752.1:n.*806-772del | |
| ENST00000619430.2:c.826-772del | ENSP00000478572.2:n.826-772del | |
| ENST00000676670.1:c.1030-772del | ENSP00000504807.1:n.1030-772del | |
| ENST00000676741.1:n.2112-772del | ||
| ENST00000677624.1:c.*450-772del | ENSP00000503979.1:n.*450-772del | |
| ENST00000677625.1:c.1030-826del | ENSP00000502857.1:n.1030-826del | |
| ENST00000677856.1:n.1283-772del | ||
| ENST00000677915.1:c.686-772del | ENSP00000503118.1:n.686-772del | |
| ENST00000678533.1:c.*584-772del | ENSP00000503873.1:n.*584-772del | |
| ENST00000678592.1:c.1119-772del | ENSP00000504424.1:n.1119-772del | |
| ENST00000278407.8:c.1030-772del | ENSP00000278407.4:n.1030-772del | |
| ENST00000340687.10:c.1030-883del | ENSP00000341861.6:n.1030-883del | |
| ENST00000378323.8:c.1045-772del | ENSP00000367574.4:n.1045-772del | |
| ENST00000378324.6:c.874-772del | ENSP00000367575.2:n.874-772del | |
| ENST00000403558.1:c.1159-772del | ENSP00000384420.1:n.1159-772del | |
| ENST00000528996.1:c.231-772del | ENSP00000431226.1:n.231-772del | |
| ENST00000531133.5:c.531-772del | ENSP00000435431.1:n.531-772del | |
| ENST00000531797.5:c.*55-772del | ENSP00000432554.1:n.*55-772del | |
| ENST00000619430.1:c.349-960del | ENSP00000478572.1:n.349-960del | |
| NM_000062.2:c.1030-772del , LRG_105t1:c.1030-772del | NP_000053.2:n.1030-772del | |
| NM_001032295.1:c.1030-772del | NP_001027466.1:n.1030-772del | |
| NM_000062.3:c.1030-772del MANE Select | NP_000053.2:n.1030-772del | |
| NM_001032295.2:c.1030-772del | NP_001027466.1:n.1030-772del |