Linked Data
dbSNP Id:
rs1559321493
gnomAD v2:
2-208994427-C-CCGAATTACATTATT
gnomAD v4:
2-208129703-C-CCGAATTACATTATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129704_208129717dup , CM000664.2:g.208129704_208129717dup | GRCh38 |
| NC_000002.11:g.208994428_208994441dup , CM000664.1:g.208994428_208994441dup | GRCh37 |
| NC_000002.10:g.208702673_208702686dup | NCBI36 |
| NG_008038.1:g.5114_5127dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.10-34_10-21dup MANE Select | ENSP00000282141.3:n.10-34_10-21dup | |
| ENST00000282141.3:c.10-34_10-21dup | ENSP00000282141.3:n.10-34_10-21dup | |
| NM_020989.3:c.10-34_10-21dup | NP_066269.1:n.10-34_10-21dup | |
| NR_038437.1:n.98-7352_98-7339dup | ||
| XM_011510661.1:c.10-34_10-21dup | XP_011508963.1:n.10-34_10-21dup | |
| XM_011510662.1:c.10-34_10-21dup | XP_011508964.1:n.10-34_10-21dup | |
| XM_011510663.1:c.-120-34_-120-21dup | XP_011508965.1:n.-120-34_-120-21dup | |
| NM_020989.4:c.10-34_10-21dup MANE Select | NP_066269.1:n.10-34_10-21dup |