Linked Data
dbSNP Id:
rs1310411969
gnomAD v2:
14-65542789-CG-C
gnomAD v3:
14-65076071-CG-C
gnomAD v4:
14-65076071-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076074del , CM000676.2:g.65076074del | GRCh38 |
| NC_000014.8:g.65542792del , CM000676.1:g.65542792del | GRCh37 |
| NC_000014.7:g.64612545del | NCBI36 |
| NG_029830.1:g.31438del , LRG_530:g.31438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.*404del | ENSP00000452206.2:n.*404del | |
| ENST00000556979.6:c.*1340del | ENSP00000452378.1:n.*1340del | |
| ENST00000358664.9:c.*404del MANE Select | ENSP00000351490.4:n.*404del | |
| ENST00000651648.1:c.145-5703del | ENSP00000498863.1:n.145-5703del | |
| ENST00000284165.10:c.*1731del | ENSP00000284165.6:n.*1731del | |
| ENST00000341653.6:c.171+17636del | ENSP00000342482.2:n.171+17636del | |
| ENST00000358402.8:c.*404del | ENSP00000351175.4:n.*404del | |
| ENST00000358664.8:c.*404del | ENSP00000351490.4:n.*404del | |
| ENST00000394606.6:c.*660del | ENSP00000378104.2:n.*660del | |
| ENST00000555932.5:c.*379del | ENSP00000450763.1:n.*379del | |
| ENST00000618858.4:c.*676del | ENSP00000480127.1:n.*676del | |
| NM_001271069.1:c.144+17636del | NP_001257998.1:n.144+17636del | |
| NM_002382.4:c.*404del | NP_002373.3:n.*404del | |
| NM_145112.2:c.*404del | NP_660087.1:n.*404del | |
| NM_145113.2:c.*676del | NP_660088.1:n.*676del | |
| NM_197957.3:c.171+17636del | NP_932061.1:n.171+17636del | |
| NR_073137.1:n.1011del | ||
| XR_429315.2:n.1174del | ||
| NM_001320415.1:c.*404del | NP_001307344.1:n.*404del | |
| XM_017021312.2:c.*404del | XP_016876801.1:n.*404del | |
| XM_017021313.1:c.*404del | XP_016876802.1:n.*404del | |
| XR_001750326.2:n.1232del | ||
| XR_001750327.2:n.1151del | ||
| XR_002957553.1:n.1665del | ||
| XR_943450.3:n.1255del | ||
| XR_943451.3:n.1271del | ||
| XR_943452.3:n.1216del | ||
| NM_001320415.2:c.*404del | NP_001307344.1:n.*404del | |
| NM_002382.5:c.*404del MANE Select | NP_002373.3:n.*404del | |
| NM_145112.3:c.*404del | NP_660087.1:n.*404del | |
| NM_145113.3:c.*676del | NP_660088.1:n.*676del | |
| NM_001271069.2:c.144+17636del | NP_001257998.1:n.144+17636del | |
| NM_197957.4:c.171+17636del | NP_932061.1:n.171+17636del |