Linked Data
dbSNP Id:
rs1418824564
gnomAD v2:
5-155935624-A-AT
gnomAD v3:
5-156508614-A-AT
gnomAD v4:
5-156508614-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156508614_156508615insT , CM000667.2:g.156508614_156508615insT | GRCh38 |
| NC_000005.9:g.155935624_155935625insT , CM000667.1:g.155935624_155935625insT | GRCh37 |
| NC_000005.8:g.155868202_155868203insT | NCBI36 |
| NG_008693.2:g.643271_643272insT , LRG_205:g.643271_643272insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.206_207insT MANE Select | ENSP00000338343.4:p.Leu70ProfsTer15 | |
| ENST00000337851.8:c.206_207insT | ENSP00000338343.4:p.Leu70ProfsTer15 | |
| ENST00000435422.7:c.203_204insT | ENSP00000403003.2:p.Leu69ProfsTer15 | |
| ENST00000517913.5:c.206_207insT | ENSP00000429378.1:p.Leu70ProfsTer15 | |
| ENST00000524347.2:c.*70_*71insT | ENSP00000430794.1:n.*70_*71insT | |
| NM_000337.5:c.206_207insT , LRG_205t1:c.206_207insT | NP_000328.2:p.Leu70ProfsTer15 | |
| NM_001128209.1:c.203_204insT | NP_001121681.1:p.Leu69ProfsTer15 | |
| NM_172244.2:c.206_207insT | NP_758447.1:p.Leu70ProfsTer15 | |
| XM_005265966.3:c.206_207insT | XP_005266023.1:p.Leu70ProfsTer15 | |
| XM_005265967.1:c.206_207insT | XP_005266024.1:p.Leu70ProfsTer15 | |
| XM_006714911.2:c.206_207insT | XP_006714974.1:p.Leu70ProfsTer15 | |
| XM_011534621.1:c.203_204insT | XP_011532923.1:p.Leu69ProfsTer15 | |
| XM_005265966.5:c.206_207insT | XP_005266023.1:p.Leu70ProfsTer15 | |
| XM_005265967.2:c.206_207insT | XP_005266024.1:p.Leu70ProfsTer15 | |
| XM_011534621.2:c.203_204insT | XP_011532923.1:p.Leu69ProfsTer15 | |
| XM_017009723.2:c.206_207insT | XP_016865212.1:p.Leu70ProfsTer15 | |
| XM_017009724.1:c.206_207insT | XP_016865213.1:p.Leu70ProfsTer15 | |
| NM_001128209.2:c.203_204insT | NP_001121681.1:p.Leu69ProfsTer15 | |
| NM_172244.3:c.206_207insT | NP_758447.1:p.Leu70ProfsTer15 | |
| NM_000337.6:c.206_207insT MANE Select | NP_000328.2:p.Leu70ProfsTer15 |