Linked Data
dbSNP Id:
rs1436397251
gnomAD v2:
16-16248758-AGT-A
gnomAD v3:
16-16154901-AGT-A
gnomAD v4:
16-16154901-AGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154907_16154908del , CM000678.2:g.16154907_16154908del | GRCh38 |
| NC_000016.9:g.16248764_16248765del , CM000678.1:g.16248764_16248765del | GRCh37 |
| NC_000016.8:g.16156265_16156266del | NCBI36 |
| NG_007558.2:g.73569_73570del | |
| NG_007558.3:g.73715_73716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.874_875del | ||
| ENST00000622290.5:c.*183_*184del | ENSP00000483331.2:n.*183_*184del | |
| ENST00000205557.12:c.4011_4012del MANE Select | ENSP00000205557.7:p.Leu1338AlafsTer? | |
| ENST00000640696.1:c.825_826del | ENSP00000492197.1:p.Leu276AlafsTer? | |
| ENST00000205557.11:c.4011_4012del | ENSP00000205557.7:p.Leu1338AlafsTer? | |
| ENST00000456970.6:c.3636_3637del | ENSP00000405002.2:n.3636_3637del | |
| ENST00000576204.5:n.874_875del | ||
| ENST00000622290.4:c.*1220_*1221del | ENSP00000483331.1:n.*1220_*1221del | |
| NM_001171.5:c.4011_4012del | NP_001162.4:p.Leu1338AlafsTer? | |
| XM_011522479.1:c.3978_3979del | XP_011520781.1:p.Leu1327AlafsTer? | |
| XM_011522480.1:c.3669_3670del | XP_011520782.1:p.Leu1224AlafsTer? | |
| XM_011522481.1:c.3669_3670del | XP_011520783.1:p.Leu1224AlafsTer? | |
| XR_933134.1:n.539-4874_539-4873del | ||
| NM_001351800.1:c.3669_3670del | NP_001338729.1:p.Leu1224AlafsTer? | |
| NR_147784.1:n.3673_3674del | ||
| XM_011522479.2:c.3978_3979del | XP_011520781.1:p.Leu1327AlafsTer? | |
| XM_011522481.3:c.3669_3670del | XP_011520783.1:p.Leu1224AlafsTer? | |
| XM_017023212.1:c.3843_3844del | XP_016878701.1:p.Leu1282AlafsTer? | |
| XM_024450261.1:c.4047_4048del | XP_024306029.1:p.Leu1350AlafsTer? | |
| NM_001171.6:c.4011_4012del MANE Select | NP_001162.5:p.Leu1338AlafsTer? |