Linked Data
dbSNP Id:
rs1162610552
gnomAD v2:
17-2216272-C-CA
gnomAD v3:
17-2312978-C-CA
gnomAD v4:
17-2312978-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2312979dup , CM000679.2:g.2312979dup | GRCh38 |
| NC_000017.10:g.2216273dup , CM000679.1:g.2216273dup | GRCh37 |
| NC_000017.9:g.2163023dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344595.10:c.-4-2578dup MANE Select | ENSP00000339435.5:n.-4-2578dup | |
| ENST00000344595.9:c.-4-2578dup | ENSP00000339435.5:n.-4-2578dup | |
| ENST00000570662.2:c.-4-2578dup | ENSP00000460581.2:n.-4-2578dup | |
| ENST00000572709.5:c.-4-2578dup | ENSP00000458814.1:n.-4-2578dup | |
| ENST00000574987.1:c.-279-4891dup | ENSP00000461343.1:n.-279-4891dup | |
| ENST00000575840.5:c.-4-2578dup | ENSP00000461589.1:n.-4-2578dup | |
| ENST00000576620.5:c.-4-2578dup | ENSP00000461125.1:n.-4-2578dup | |
| ENST00000576848.1:c.-85+8962dup | ENSP00000476682.1:n.-85+8962dup | |
| NM_001304803.1:c.-279-4891dup | NP_001291732.1:n.-279-4891dup | |
| NM_021947.2:c.-4-2578dup | NP_068766.1:n.-4-2578dup | |
| XM_006721565.2:c.-4-2578dup | XP_006721628.1:n.-4-2578dup | |
| XM_006721566.2:c.-4-2578dup | XP_006721629.1:n.-4-2578dup | |
| XM_011523974.1:c.-4-2578dup | XP_011522276.1:n.-4-2578dup | |
| XM_011523975.1:c.-4-2578dup | XP_011522277.1:n.-4-2578dup | |
| XM_006721565.3:c.-4-2578dup | XP_006721628.1:n.-4-2578dup | |
| XM_006721566.3:c.-4-2578dup | XP_006721629.1:n.-4-2578dup | |
| XM_011523974.3:c.-4-2578dup | XP_011522276.1:n.-4-2578dup | |
| NM_021947.3:c.-4-2578dup MANE Select | NP_068766.1:n.-4-2578dup |