Linked Data
dbSNP Id:
rs1392455319
gnomAD v3:
16-20343153-A-AAATG
gnomAD v4:
16-20343153-A-AAATG
MyVariant Identifiers:
chr16:g.20354475_20354476insAATG (hg19)
chr16:g.20343153_20343154insAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20343156_20343157insGAAT , CM000678.2:g.20343156_20343157insGAAT | GRCh38 |
| NC_000016.9:g.20354478_20354479insGAAT , CM000678.1:g.20354478_20354479insGAAT | GRCh37 |
| NC_000016.8:g.20261979_20261980insGAAT | NCBI36 |
| NG_008151.1:g.14562_14563insCATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396138.9:c.1331+870_1331+871insCATT MANE Select | ENSP00000379442.5:n.1331+870_1331+871insCATT | |
| ENST00000302509.8:c.1331+870_1331+871insCATT | ENSP00000306279.4:n.1331+870_1331+871insCATT | |
| ENST00000396134.6:c.1430+870_1430+871insCATT | ENSP00000379438.2:n.1430+870_1430+871insCATT | |
| ENST00000396138.8:c.1478+870_1478+871insCATT | ENSP00000379442.4:n.1478+870_1478+871insCATT | |
| ENST00000570689.5:c.1331+870_1331+871insCATT | ENSP00000460548.1:n.1331+870_1331+871insCATT | |
| NM_001008389.2:c.1331+870_1331+871insCATT | NP_001008390.1:n.1331+870_1331+871insCATT | |
| NM_001278614.1:c.1430+870_1430+871insCATT | NP_001265543.1:n.1430+870_1430+871insCATT | |
| NM_003361.3:c.1331+870_1331+871insCATT | NP_003352.2:n.1331+870_1331+871insCATT | |
| XM_011545934.1:c.1416-600_1416-599insCATT | XP_011544236.1:n.1416-600_1416-599insCATT | |
| XM_011545935.1:c.1332-600_1332-599insCATT | XP_011544237.1:n.1332-600_1332-599insCATT | |
| XM_011545936.1:c.1332-600_1332-599insCATT | XP_011544238.1:n.1332-600_1332-599insCATT | |
| XM_011545937.1:c.1332-600_1332-599insCATT | XP_011544239.1:n.1332-600_1332-599insCATT | |
| XM_011545938.1:c.1332-600_1332-599insCATT | XP_011544240.1:n.1332-600_1332-599insCATT | |
| XM_011545939.1:c.1415+870_1415+871insCATT | XP_011544241.1:n.1415+870_1415+871insCATT | |
| XM_011545940.1:c.1479-600_1479-599insCATT | XP_011544242.1:n.1479-600_1479-599insCATT | |
| XM_011545934.2:c.1332-600_1332-599insCATT | XP_011544236.2:n.1332-600_1332-599insCATT | |
| XM_011545940.2:c.1332-600_1332-599insCATT | XP_011544242.2:n.1332-600_1332-599insCATT | |
| XM_024450433.1:c.1332-600_1332-599insCATT | XP_024306201.1:n.1332-600_1332-599insCATT | |
| NM_001008389.3:c.1331+870_1331+871insCATT | NP_001008390.1:n.1331+870_1331+871insCATT | |
| NM_001278614.2:c.1430+870_1430+871insCATT | NP_001265543.1:n.1430+870_1430+871insCATT | |
| NM_001378232.1:c.1331+870_1331+871insCATT | NP_001365161.1:n.1331+870_1331+871insCATT | |
| NM_001378233.1:c.1331+870_1331+871insCATT | NP_001365162.1:n.1331+870_1331+871insCATT | |
| NM_001378234.1:c.1332-600_1332-599insCATT | NP_001365163.1:n.1332-600_1332-599insCATT | |
| NM_001378235.1:c.1332-600_1332-599insCATT | NP_001365164.1:n.1332-600_1332-599insCATT | |
| NM_003361.4:c.1331+870_1331+871insCATT MANE Select | NP_003352.2:n.1331+870_1331+871insCATT | |
| NR_165456.1:n.1554+870_1554+871insCATT |