Linked Data
gnomAD v4:
19-49636469-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49636470_49636471del , CM000681.2:g.49636470_49636471del | GRCh38 |
| NC_000019.9:g.50139727_50139728del , CM000681.1:g.50139727_50139728del | GRCh37 |
| NC_000019.8:g.54831539_54831540del | NCBI36 |
| NG_042222.1:g.8673_8674del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246792.4:c.453+148_453+149del MANE Select | ENSP00000246792.2:n.453+148_453+149del | |
| ENST00000246792.3:c.453+148_453+149del | ENSP00000246792.2:n.453+148_453+149del | |
| ENST00000601532.1:n.593+148_593+149del | ||
| NM_006270.3:c.453+148_453+149del | NP_006261.1:n.453+148_453+149del | |
| NM_006270.4:c.453+148_453+149del | NP_006261.1:n.453+148_453+149del | |
| NM_006270.5:c.453+148_453+149del MANE Select | NP_006261.1:n.453+148_453+149del |