Linked Data
dbSNP Id:
rs147846395
gnomAD v3:
16-20343129-C-CAATAAATAAATAAATAAATAAATA
gnomAD v4:
16-20343129-C-CAATAAATAAATAAATAAATAAATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20343135_20343158dup , CM000678.2:g.20343135_20343158dup | GRCh38 |
| NC_000016.9:g.20354457_20354480dup , CM000678.1:g.20354457_20354480dup | GRCh37 |
| NC_000016.8:g.20261958_20261981dup | NCBI36 |
| NG_008151.1:g.14563_14586dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396138.9:c.1331+871_1331+894dup MANE Select | ENSP00000379442.5:n.1331+871_1331+894dup | |
| ENST00000302509.8:c.1331+871_1331+894dup | ENSP00000306279.4:n.1331+871_1331+894dup | |
| ENST00000396134.6:c.1430+871_1430+894dup | ENSP00000379438.2:n.1430+871_1430+894dup | |
| ENST00000396138.8:c.1478+871_1478+894dup | ENSP00000379442.4:n.1478+871_1478+894dup | |
| ENST00000570689.5:c.1331+871_1331+894dup | ENSP00000460548.1:n.1331+871_1331+894dup | |
| NM_001008389.2:c.1331+871_1331+894dup | NP_001008390.1:n.1331+871_1331+894dup | |
| NM_001278614.1:c.1430+871_1430+894dup | NP_001265543.1:n.1430+871_1430+894dup | |
| NM_003361.3:c.1331+871_1331+894dup | NP_003352.2:n.1331+871_1331+894dup | |
| XM_011545934.1:c.1416-599_1416-576dup | XP_011544236.1:n.1416-599_1416-576dup | |
| XM_011545935.1:c.1332-599_1332-576dup | XP_011544237.1:n.1332-599_1332-576dup | |
| XM_011545936.1:c.1332-599_1332-576dup | XP_011544238.1:n.1332-599_1332-576dup | |
| XM_011545937.1:c.1332-599_1332-576dup | XP_011544239.1:n.1332-599_1332-576dup | |
| XM_011545938.1:c.1332-599_1332-576dup | XP_011544240.1:n.1332-599_1332-576dup | |
| XM_011545939.1:c.1415+871_1415+894dup | XP_011544241.1:n.1415+871_1415+894dup | |
| XM_011545940.1:c.1479-599_1479-576dup | XP_011544242.1:n.1479-599_1479-576dup | |
| XM_011545934.2:c.1332-599_1332-576dup | XP_011544236.2:n.1332-599_1332-576dup | |
| XM_011545940.2:c.1332-599_1332-576dup | XP_011544242.2:n.1332-599_1332-576dup | |
| XM_024450433.1:c.1332-599_1332-576dup | XP_024306201.1:n.1332-599_1332-576dup | |
| NM_001008389.3:c.1331+871_1331+894dup | NP_001008390.1:n.1331+871_1331+894dup | |
| NM_001278614.2:c.1430+871_1430+894dup | NP_001265543.1:n.1430+871_1430+894dup | |
| NM_001378232.1:c.1331+871_1331+894dup | NP_001365161.1:n.1331+871_1331+894dup | |
| NM_001378233.1:c.1331+871_1331+894dup | NP_001365162.1:n.1331+871_1331+894dup | |
| NM_001378234.1:c.1332-599_1332-576dup | NP_001365163.1:n.1332-599_1332-576dup | |
| NM_001378235.1:c.1332-599_1332-576dup | NP_001365164.1:n.1332-599_1332-576dup | |
| NM_003361.4:c.1331+871_1331+894dup MANE Select | NP_003352.2:n.1331+871_1331+894dup | |
| NR_165456.1:n.1554+871_1554+894dup |