Linked Data
dbSNP Id:
rs546527484
gnomAD v3:
7-87516731-C-CTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
7-87516731-C-CTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87516754_87516755insTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.87516754_87516755insTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000007.13:g.87146070_87146071insTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.87146070_87146071insTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000007.12:g.86984006_86984007insTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_011513.1:g.201517_201518insAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000265724.3:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000622132.5:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000478255.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000265724.7:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000265724.3:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000475929.5:n.84-67_84-66insAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000483831.1:n.486-67_486-66insAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000488737.6:n.570-67_570-66insAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000496821.5:n.556-67_556-66insAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000543898.5:c.2736-67_2736-66insAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000444095.1:n.2736-67_2736-66insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000622132.4:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000478255.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000927.4:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | NP_000918.2:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001348944.1:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335873.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001348945.1:c.3138-67_3138-66insAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335874.1:n.3138-67_3138-66insAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001348946.1:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335875.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001348946.2:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_001335875.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_000927.5:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | NP_000918.2:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001348944.2:c.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335873.1:n.2928-67_2928-66insAAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001348945.2:c.3138-67_3138-66insAAAAAAAAAAAAAAAAAAAAAAAA | NP_001335874.1:n.3138-67_3138-66insAAAAAAAAAAAAAAAAAAAAAAAA |