Linked Data
dbSNP Id:
rs71472216
gnomAD v3:
10-62531595-C-CAAAAAAAAAAAAAAAA
gnomAD v4:
10-62531595-C-CAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62531600_62531615dup , CM000672.2:g.62531600_62531615dup | GRCh38 |
| NC_000010.10:g.64291359_64291374dup , CM000672.1:g.64291359_64291374dup | GRCh37 |
| NC_000010.9:g.63961365_63961380dup | NCBI36 |
| NG_021209.1:g.162444_162459dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+71803_981+71818dup | ENSP00000502188.1:n.981+71803_981+71818dup | |
| ENST00000395251.5:c.-185+11003_-185+11018dup | ENSP00000378672.1:n.-185+11003_-185+11018dup | |
| ENST00000410046.7:c.981+71803_981+71818dup | ENSP00000387091.3:n.981+71803_981+71818dup | |
| NM_199451.2:c.981+71803_981+71818dup | NP_955523.1:n.981+71803_981+71818dup | |
| NM_199452.3:c.-185+11003_-185+11018dup | NP_955524.3:n.-185+11003_-185+11018dup | |
| XM_017015937.2:c.982-12609_982-12594dup | XP_016871426.1:n.982-12609_982-12594dup | |
| NM_199451.3:c.981+71803_981+71818dup | NP_955523.1:n.981+71803_981+71818dup |