Linked Data
gnomAD v3:
10-62531595-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
10-62531595-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62531615_62531616insAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.2:g.62531615_62531616insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000010.10:g.64291374_64291375insAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.1:g.64291374_64291375insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000010.9:g.63961380_63961381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_021209.1:g.162459_162460insAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+71818_981+71819insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000502188.1:n.981+71818_981+71819insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000395251.5:c.-185+11018_-185+11019insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000378672.1:n.-185+11018_-185+11019insAAAAAAAAAAAAAAAAA... | |
| ENST00000410046.7:c.981+71818_981+71819insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000387091.3:n.981+71818_981+71819insAAAAAAAAAAAAAAAAAAA... | |
| NM_199451.2:c.981+71818_981+71819insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_955523.1:n.981+71818_981+71819insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_199452.3:c.-185+11018_-185+11019insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_955524.3:n.-185+11018_-185+11019insAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017015937.2:c.982-12594_982-12593insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016871426.1:n.982-12594_982-12593insAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_199451.3:c.981+71818_981+71819insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_955523.1:n.981+71818_981+71819insAAAAAAAAAAAAAAAAAAAAAAAAA... |