Linked Data
dbSNP Id:
rs1171467245
gnomAD v3:
12-7086559-T-TTGGCTCCCCCATGGATG
gnomAD v4:
12-7086559-T-TTGGCTCCCCCATGGATG
MyVariant Identifiers:
chr12:g.7086559_7086560insTGGCTCCCCCATGGATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7086601_7086617dup , CM000674.2:g.7086601_7086617dup | GRCh38 |
| NG_062465.1:g.11032_11048dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.1039-119_1039-103dup MANE Select | ENSP00000497341.1:n.1039-119_1039-103dup | |
| ENST00000648162.1:n.1011-119_1011-103dup | ||
| ENST00000649804.1:c.133-119_133-103dup | ENSP00000497938.1:n.133-119_133-103dup | |
| ENST00000535233.6:c.937-119_937-103dup | ENSP00000438636.3:n.937-119_937-103dup | |
| ENST00000536053.6:c.1081-119_1081-103dup | ENSP00000444271.3:n.1081-119_1081-103dup | |
| ENST00000540394.5:n.2104-119_2104-103dup | ||
| ENST00000542285.5:c.1039-119_1039-103dup | ENSP00000438615.2:n.1039-119_1039-103dup | |
| ENST00000602298.2:n.1269_1285dup | ||
| NM_001733.4:c.1039-119_1039-103dup | NP_001724.3:n.1039-119_1039-103dup | |
| NM_001354346.1:c.1081-119_1081-103dup | NP_001341275.1:n.1081-119_1081-103dup | |
| NM_001733.6:c.1039-119_1039-103dup | NP_001724.4:n.1039-119_1039-103dup | |
| NM_001733.7:c.1039-119_1039-103dup MANE Select | NP_001724.4:n.1039-119_1039-103dup | |
| NM_001354346.2:c.1081-119_1081-103dup | NP_001341275.1:n.1081-119_1081-103dup |