Linked Data
gnomAD v4:
19-39507385-GCCGGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507387_39507392del , CM000681.2:g.39507387_39507392del | GRCh38 |
| NC_000019.9:g.39998027_39998032del , CM000681.1:g.39998027_39998032del | GRCh37 |
| NC_000019.8:g.44689867_44689872del | NCBI36 |
| NG_008256.1:g.13471_13476del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.1442_1447del MANE Select | ENSP00000348810.4:p.Pro481_Gly482del | |
| ENST00000205143.4:c.1442_1447del | ENSP00000205143.3:p.Pro481_Gly482del | |
| ENST00000356433.9:c.1442_1447del | ENSP00000348810.4:p.Pro481_Gly482del | |
| NM_016941.3:c.1442_1447del | NP_058637.1:p.Pro481_Gly482del | |
| NM_203486.2:c.1442_1447del | NP_982353.1:p.Pro481_Gly482del | |
| NM_016941.4:c.1442_1447del | NP_058637.1:p.Pro481_Gly482del | |
| NM_203486.3:c.1442_1447del MANE Select | NP_982353.1:p.Pro481_Gly482del |