Linked Data
dbSNP Id:
rs1969894235
gnomAD v3:
19-44909370-TAAAGATTCACC-T
gnomAD v4:
19-44909370-TAAAGATTCACC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909373_44909383del , CM000681.2:g.44909373_44909383del | GRCh38 |
| NC_000019.9:g.45412630_45412640del , CM000681.1:g.45412630_45412640del | GRCh37 |
| NC_000019.8:g.50104470_50104480del | NCBI36 |
| NG_007084.2:g.8592_8602del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.*123_*133del MANE Select | ENSP00000252486.3:n.*123_*133del | |
| ENST00000252486.8:c.*123_*133del | ENSP00000252486.3:n.*123_*133del | |
| NM_000041.3:c.*123_*133del | NP_000032.1:n.*123_*133del | |
| NM_001302688.1:c.*123_*133del | NP_001289617.1:n.*123_*133del | |
| NM_001302689.1:c.*123_*133del | NP_001289618.1:n.*123_*133del | |
| NM_001302690.1:c.*123_*133del | NP_001289619.1:n.*123_*133del | |
| NM_001302691.1:c.*123_*133del | NP_001289620.1:n.*123_*133del | |
| NM_000041.4:c.*123_*133del MANE Select | NP_000032.1:n.*123_*133del | |
| NM_001302688.2:c.*123_*133del | NP_001289617.1:n.*123_*133del | |
| NM_001302689.2:c.*123_*133del | NP_001289618.1:n.*123_*133del | |
| NM_001302691.2:c.*123_*133del | NP_001289620.1:n.*123_*133del | |
| NM_001302690.2:c.*123_*133del | NP_001289619.1:n.*123_*133del |