Linked Data
dbSNP Id:
rs1194196767
gnomAD v2:
1-11906993-A-ATTTTTT
gnomAD v3:
1-11846936-A-ATTTTTT
gnomAD v4:
1-11846936-A-ATTTTTT
MyVariant Identifiers:
chr1:g.11906993_11906994insTTTTTT (hg19)
chr1:g.11846936_11846937insTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11846940_11846941insTTTTTT , CM000663.2:g.11846940_11846941insTTTTTT | GRCh38 |
| NC_000001.10:g.11906997_11906998insTTTTTT , CM000663.1:g.11906997_11906998insTTTTTT | GRCh37 |
| NC_000001.9:g.11829584_11829585insTTTTTT | NCBI36 |
| NG_012926.1:g.5847_5848insAAAAAA , LRG_751:g.5847_5848insAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400892.3:c.*1962-637_*1962-636insTTTTTT (CLCN6) | ENSP00000496938.1:n.*1962-637_*1962-636insTTTTTT | |
| ENST00000446542.5:n.782-494_782-493insTTTTTT (NPPA-AS1) | ||
| ENST00000376476.1:c.300+176_300+177insAAAAAA (NPPA) | ENSP00000365659.1:n.300+176_300+177insAAAAAA | |
| ENST00000376480.7:c.450+176_450+177insAAAAAA (NPPA) MANE Select | ENSP00000365663.3:n.450+176_450+177insAAAAAA | |
| ENST00000610706.1:c.450+176_450+177insAAAAAA (NPPA) | ENSP00000483195.1:n.450+176_450+177insAAAAAA | |
| NM_006172.3:c.450+176_450+177insAAAAAA , LRG_751t1:c.450+176_450+177insAAAAAA (NPPA) | NP_006163.1:n.450+176_450+177insAAAAAA | |
| NR_037806.1:n.1480-494_1480-493insTTTTTT (NPPA-AS1) | ||
| NM_006172.4:c.450+176_450+177insAAAAAA (NPPA) MANE Select | NP_006163.1:n.450+176_450+177insAAAAAA |