Linked Data
gnomAD v3:
7-87516739-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG
gnomAD v4:
7-87516739-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87516754_87516755insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT , CM000669.2:g.87516754_87516755insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT | GRCh38 |
| NC_000007.13:g.87146070_87146071insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT , CM000669.1:g.87146070_87146071insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT | GRCh37 |
| NC_000007.12:g.86984006_86984007insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT | NCBI36 |
| NG_011513.1:g.201509_201510insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000265724.3:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000622132.5:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000478255.1:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000265724.7:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000265724.3:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000475929.5:n.84-75_84-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000483831.1:n.486-75_486-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000488737.6:n.570-75_570-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000496821.5:n.556-75_556-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000543898.5:c.2736-75_2736-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000444095.1:n.2736-75_2736-74insCAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000622132.4:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000478255.1:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000927.4:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000918.2:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001348944.1:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335873.1:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001348945.1:c.3138-75_3138-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335874.1:n.3138-75_3138-74insCAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001348946.1:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335875.1:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001348946.2:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_001335875.1:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000927.5:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000918.2:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001348944.2:c.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335873.1:n.2928-75_2928-74insCAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001348945.2:c.3138-75_3138-74insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335874.1:n.3138-75_3138-74insCAAAAAAAAAAAAAAAAAAAAAAAAA... |