Linked Data
dbSNP Id:
rs397994464
gnomAD v3:
4-89725318-T-TAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
4-89725318-T-TAAAAAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89725335_89725336insAAAAAAAAAAAAAAAAAAAAAAA , CM000666.2:g.89725335_89725336insAAAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000004.11:g.90646486_90646487insAAAAAAAAAAAAAAAAAAAAAAA , CM000666.1:g.90646486_90646487insAAAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000004.10:g.90865509_90865510insAAAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_011851.1:g.117978_117979insTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394991.8:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000378442.4:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| ENST00000673718.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000500990.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| ENST00000673766.1:n.1987_1988insTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000673902.1:c.390+3875_390+3876insTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000501102.1:n.390+3875_390+3876insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000336904.7:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000338345.3:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| ENST00000394989.6:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000378440.2:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| ENST00000420646.6:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000396241.2:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| ENST00000618500.4:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000484044.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_000345.3:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_000336.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001146054.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001139526.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001146055.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001139527.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_007308.2:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_009292.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_000345.4:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_000336.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001146054.2:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001139526.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001146055.2:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001139527.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001375285.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001362214.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001375286.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001362215.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001375287.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001362216.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001375288.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001362217.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001375290.1:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_001362219.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_164674.1:n.1277-5_1277-4insTTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_164675.1:n.1424-5_1424-4insTTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_164676.1:n.2030_2031insTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_007308.3:c.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT | NP_009292.1:n.*1309_*1310insTTTTTTTTTTTTTTTTTTTTTTT |