Linked Data
gnomAD v4:
19-1401286-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401291dup , CM000681.2:g.1401291dup | GRCh38 |
| NC_000019.9:g.1401290dup , CM000681.1:g.1401290dup | GRCh37 |
| NC_000019.8:g.1352290dup | NCBI36 |
| NG_009785.1:g.5267dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.181+9dup MANE Select | ENSP00000252288.1:n.181+9dup | |
| ENST00000447102.8:c.181+9dup | ENSP00000403536.2:n.181+9dup | |
| ENST00000640762.1:c.112+78dup | ENSP00000492031.1:n.112+78dup | |
| ENST00000252288.6:c.181+9dup | ENSP00000252288.1:n.181+9dup | |
| ENST00000447102.7:c.181+9dup | ENSP00000403536.2:n.181+9dup | |
| NM_000156.5:c.181+9dup | NP_000147.1:n.181+9dup | |
| NM_138924.2:c.181+9dup | NP_620279.1:n.181+9dup | |
| NM_000156.6:c.181+9dup MANE Select | NP_000147.1:n.181+9dup | |
| NM_138924.3:c.181+9dup | NP_620279.1:n.181+9dup |