Linked Data
dbSNP Id:
rs1187564313
gnomAD v2:
16-23646568-C-CTTTTTTT
MyVariant Identifiers:
chr16:g.23646568_23646569insTTTTTTT (hg19)
chr16:g.23635247_23635248insTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635247_23635248insTTTTTTT , CM000678.2:g.23635247_23635248insTTTTTTT | GRCh38 |
| NC_000016.9:g.23646568_23646569insTTTTTTT , CM000678.1:g.23646568_23646569insTTTTTTT | GRCh37 |
| NC_000016.8:g.23554069_23554070insTTTTTTT | NCBI36 |
| NG_007406.1:g.11110_11111insAAAAAAA , LRG_308:g.11110_11111insAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1304_1305insAAAAAAA | ENSP00000460666.3:p.Asp436LysfsTer10 | |
| ENST00000565038.2:c.211+2602_211+2603insAAAAAAA | ENSP00000459882.2:n.211+2602_211+2603insAAAAAAA | |
| ENST00000566069.6:c.1298_1299insAAAAAAA | ENSP00000459237.2:p.Asp434LysfsTer10 | |
| ENST00000697377.2:c.1304_1305insAAAAAAA | ENSP00000513286.2:p.Asp436LysfsTer10 | |
| ENST00000697379.2:c.1304_1305insAAAAAAA | ENSP00000513287.2:p.Asp436LysfsTer10 | |
| ENST00000561514.2:c.413_414insAAAAAAA | ENSP00000460666.2:p.Asp139LysfsTer10 | |
| ENST00000697374.1:c.413_414insAAAAAAA | ENSP00000513284.1:p.Asp139LysfsTer10 | |
| ENST00000697375.1:n.2645_2646insAAAAAAA | ||
| ENST00000697376.1:c.413_414insAAAAAAA | ENSP00000513285.1:p.Asp139LysfsTer10 | |
| ENST00000697377.1:c.413_414insAAAAAAA | ENSP00000513286.1:p.Asp139LysfsTer10 | |
| ENST00000697378.1:n.1818_1819insAAAAAAA | ||
| ENST00000697379.1:c.413_414insAAAAAAA | ENSP00000513287.1:p.Asp139LysfsTer10 | |
| ENST00000697382.1:c.413_414insAAAAAAA | ENSP00000513288.1:p.Asp139LysfsTer10 | |
| ENST00000697383.1:c.48+5862_48+5863insAAAAAAA | ENSP00000513289.1:n.48+5862_48+5863insAAAAAAA | |
| ENST00000697384.1:n.1452_1453insAAAAAAA | ||
| ENST00000261584.9:c.1298_1299insAAAAAAA MANE Select | ENSP00000261584.4:p.Asp434LysfsTer10 | |
| ENST00000261584.8:c.1298_1299insAAAAAAA | ENSP00000261584.4:p.Asp434LysfsTer10 | |
| ENST00000565038.1:c.86+2602_86+2603insAAAAAAA | ||
| ENST00000568219.5:c.413_414insAAAAAAA | ENSP00000454703.2:p.Asp139LysfsTer10 | |
| NM_024675.3:c.1298_1299insAAAAAAA , LRG_308t1:c.1298_1299insAAAAAAA | NP_078951.2:p.Asp434LysfsTer10 | |
| XM_011545946.1:c.1304_1305insAAAAAAA | XP_011544248.1:p.Asp436LysfsTer10 | |
| XM_011545947.1:c.1304_1305insAAAAAAA | XP_011544249.1:p.Asp436LysfsTer10 | |
| XM_011545948.1:c.413_414insAAAAAAA | XP_011544250.1:p.Asp139LysfsTer10 | |
| XR_950851.1:n.2094_2095insAAAAAAA | ||
| XM_011545946.2:c.1304_1305insAAAAAAA | XP_011544248.1:p.Asp436LysfsTer10 | |
| XM_011545947.2:c.1304_1305insAAAAAAA | XP_011544249.1:p.Asp436LysfsTer10 | |
| XM_011545948.2:c.413_414insAAAAAAA | XP_011544250.1:p.Asp139LysfsTer10 | |
| XM_017023671.1:c.1304_1305insAAAAAAA | XP_016879160.1:p.Asp436LysfsTer10 | |
| XM_017023672.2:c.1298_1299insAAAAAAA | XP_016879161.1:p.Asp434LysfsTer10 | |
| XM_017023673.2:c.1298_1299insAAAAAAA | XP_016879162.1:p.Asp434LysfsTer10 | |
| NM_024675.4:c.1298_1299insAAAAAAA MANE Select | NP_078951.2:p.Asp434LysfsTer10 |