Linked Data
dbSNP Id:
rs1378475897
gnomAD v2:
3-10184301-T-TA
gnomAD v3:
3-10142617-T-TA
gnomAD v4:
3-10142617-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142618dup , CM000665.2:g.10142618dup | GRCh38 |
| NC_000003.11:g.10184302dup , CM000665.1:g.10184302dup | GRCh37 |
| NC_000003.10:g.10159302dup | NCBI36 |
| NG_008212.3:g.5984dup , LRG_322:g.5984dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.341-145dup | ENSP00000512434.1:n.341-145dup | |
| ENST00000696143.1:c.341-145dup | ENSP00000512435.1:n.341-145dup | |
| ENST00000696153.1:c.340+431dup | ENSP00000512444.1:n.340+431dup | |
| ENST00000256474.3:c.340+431dup MANE Select | ENSP00000256474.3:n.340+431dup | |
| ENST00000256474.2:c.340+431dup | ENSP00000256474.2:n.340+431dup | |
| ENST00000345392.2:c.340+431dup | ENSP00000344757.2:n.340+431dup | |
| ENST00000477538.1:n.73dup | ||
| NM_000551.3:c.340+431dup , LRG_322t1:c.340+431dup | NP_000542.1:n.340+431dup | |
| NM_198156.2:c.340+431dup | NP_937799.1:n.340+431dup | |
| XM_011534078.1:c.341-145dup | XP_011532380.1:n.341-145dup | |
| NM_001354723.1:c.341-145dup | NP_001341652.1:n.341-145dup | |
| NM_000551.4:c.340+431dup MANE Select | NP_000542.1:n.340+431dup | |
| NM_001354723.2:c.341-145dup | NP_001341652.1:n.341-145dup | |
| NM_198156.3:c.340+431dup | NP_937799.1:n.340+431dup |