Linked Data
dbSNP Id:
rs1434948146
gnomAD v2:
12-52159450-C-CTTT
gnomAD v3:
12-51765666-C-CTTT
gnomAD v4:
12-51765666-C-CTTT
MyVariant Identifiers:
chr12:g.52159450_52159451insTTT (hg19)
chr12:g.51765666_51765667insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51765668_51765669insTTT , CM000674.2:g.51765668_51765669insTTT | GRCh38 |
| NC_000012.11:g.52159452_52159453insTTT , CM000674.1:g.52159452_52159453insTTT | GRCh37 |
| NC_000012.10:g.50445719_50445720insTTT | NCBI36 |
| NG_021180.2:g.179433_179434insTTT | |
| NG_021180.3:g.180711_180712insTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.2545-3_2545-2insTTT MANE Plus Clinical | ENSP00000346534.4:n.2545-3_2545-2insTTT | |
| ENST00000548086.3:c.392-3_392-2insTTT | ||
| ENST00000627620.5:c.2545-3_2545-2insTTT MANE Select | ENSP00000487583.2:n.2545-3_2545-2insTTT | |
| ENST00000636945.2:c.549-3_549-2insTTT | ||
| ENST00000662684.1:c.2545-3_2545-2insTTT | ENSP00000499636.1:n.2545-3_2545-2insTTT | |
| ENST00000668547.1:c.2545-3_2545-2insTTT | ENSP00000499691.1:n.2545-3_2545-2insTTT | |
| ENST00000354534.10:c.2545-3_2545-2insTTT | ENSP00000346534.4:n.2545-3_2545-2insTTT | |
| ENST00000355133.7:c.2545-3_2545-2insTTT | ENSP00000347255.4:n.2545-3_2545-2insTTT | |
| ENST00000545061.5:c.2545-3_2545-2insTTT | ENSP00000440360.1:n.2545-3_2545-2insTTT | |
| ENST00000550891.4:n.2673-3_2673-2insTTT | ||
| ENST00000599343.5:c.2578-3_2578-2insTTT | ENSP00000476447.3:n.2578-3_2578-2insTTT | |
| ENST00000627620.2:c.2545-3_2545-2insTTT | ENSP00000487583.1:n.2545-3_2545-2insTTT | |
| NM_001177984.2:c.2545-3_2545-2insTTT | NP_001171455.1:n.2545-3_2545-2insTTT | |
| NM_014191.3:c.2545-3_2545-2insTTT | NP_055006.1:n.2545-3_2545-2insTTT | |
| XM_006719556.2:c.2545-3_2545-2insTTT | XP_006719619.1:n.2545-3_2545-2insTTT | |
| XM_011538650.1:c.2545-3_2545-2insTTT | XP_011536952.1:n.2545-3_2545-2insTTT | |
| XM_011538651.1:c.2545-3_2545-2insTTT | XP_011536953.1:n.2545-3_2545-2insTTT | |
| NM_001330260.1:c.2545-3_2545-2insTTT | NP_001317189.1:n.2545-3_2545-2insTTT | |
| XM_006719556.4:c.2545-3_2545-2insTTT | XP_006719619.1:n.2545-3_2545-2insTTT | |
| XM_011538651.3:c.2545-3_2545-2insTTT | XP_011536953.1:n.2545-3_2545-2insTTT | |
| XM_017019794.2:c.2545-3_2545-2insTTT | XP_016875283.1:n.2545-3_2545-2insTTT | |
| XM_017019795.2:c.2545-3_2545-2insTTT | XP_016875284.1:n.2545-3_2545-2insTTT | |
| XM_017019796.1:c.2545-3_2545-2insTTT | XP_016875285.1:n.2545-3_2545-2insTTT | |
| NM_001330260.2:c.2545-3_2545-2insTTT MANE Select | NP_001317189.1:n.2545-3_2545-2insTTT | |
| NM_001369788.1:c.2545-3_2545-2insTTT | NP_001356717.1:n.2545-3_2545-2insTTT | |
| NM_014191.4:c.2545-3_2545-2insTTT MANE Plus Clinical | NP_055006.1:n.2545-3_2545-2insTTT | |
| NM_001177984.3:c.2545-3_2545-2insTTT | NP_001171455.1:n.2545-3_2545-2insTTT |