Linked Data
gnomAD v4:
19-49636498-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49636503_49636504del , CM000681.2:g.49636503_49636504del | GRCh38 |
| NC_000019.9:g.50139760_50139761del , CM000681.1:g.50139760_50139761del | GRCh37 |
| NC_000019.8:g.54831572_54831573del | NCBI36 |
| NG_042222.1:g.8644_8645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246792.4:c.453+119_453+120del MANE Select | ENSP00000246792.2:n.453+119_453+120del | |
| ENST00000246792.3:c.453+119_453+120del | ENSP00000246792.2:n.453+119_453+120del | |
| ENST00000601532.1:n.593+119_593+120del | ||
| NM_006270.3:c.453+119_453+120del | NP_006261.1:n.453+119_453+120del | |
| NM_006270.4:c.453+119_453+120del | NP_006261.1:n.453+119_453+120del | |
| NM_006270.5:c.453+119_453+120del MANE Select | NP_006261.1:n.453+119_453+120del |