Linked Data
dbSNP Id:
rs1470749913
gnomAD v2:
16-89839644-CAT-C
gnomAD v3:
16-89773236-CAT-C
gnomAD v4:
16-89773236-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89773237_89773238del , CM000678.2:g.89773237_89773238del | GRCh38 |
| NC_000016.9:g.89839645_89839646del , CM000678.1:g.89839645_89839646del | GRCh37 |
| NC_000016.8:g.88367146_88367147del | NCBI36 |
| NG_011706.1:g.48420_48421del , LRG_495:g.48420_48421del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*204+33_*204+34del | ENSP00000512522.1:n.*204+33_*204+34del | |
| ENST00000564475.6:c.2014+33_2014+34del | ENSP00000454977.2:n.2014+33_2014+34del | |
| ENST00000567205.2:c.2014+33_2014+34del | ENSP00000457027.2:n.2014+33_2014+34del | |
| ENST00000567284.7:n.2057+33_2057+34del | ||
| ENST00000567510.2:c.510+33_510+34del | ENSP00000455969.1:n.510+33_510+34del | |
| ENST00000568369.6:c.2014+33_2014+34del | ENSP00000456829.1:n.2014+33_2014+34del | |
| ENST00000696274.1:n.1975+33_1975+34del | ||
| ENST00000696275.1:c.*1249+33_*1249+34del | ENSP00000512517.1:n.*1249+33_*1249+34del | |
| ENST00000696276.1:n.2057+33_2057+34del | ||
| ENST00000696286.1:c.2014+33_2014+34del | ENSP00000512523.1:n.2014+33_2014+34del | |
| ENST00000696287.1:c.2014+33_2014+34del | ENSP00000512524.1:n.2014+33_2014+34del | |
| ENST00000696291.1:c.*1430+33_*1430+34del | ENSP00000512530.1:n.*1430+33_*1430+34del | |
| ENST00000389301.8:c.2014+33_2014+34del MANE Select | ENSP00000373952.3:n.2014+33_2014+34del | |
| ENST00000389301.7:c.2014+33_2014+34del | ENSP00000373952.3:n.2014+33_2014+34del | |
| ENST00000567284.6:n.238+33_238+34del | ||
| ENST00000568369.5:c.2014+33_2014+34del | ENSP00000456829.1:n.2014+33_2014+34del | |
| NM_000135.2:c.2014+33_2014+34del , LRG_495t1:c.2014+33_2014+34del | NP_000126.2:n.2014+33_2014+34del | |
| NM_001286167.1:c.2014+33_2014+34del | NP_001273096.1:n.2014+33_2014+34del | |
| XM_005256294.3:c.2014+33_2014+34del | XP_005256351.1:n.2014+33_2014+34del | |
| XM_011522945.1:c.2014+33_2014+34del | XP_011521247.1:n.2014+33_2014+34del | |
| XM_011522946.1:c.991+33_991+34del | XP_011521248.1:n.991+33_991+34del | |
| XM_011522947.1:c.991+33_991+34del | XP_011521249.1:n.991+33_991+34del | |
| XM_011522948.1:c.2014+33_2014+34del | XP_011521250.1:n.2014+33_2014+34del | |
| XR_933244.1:n.2057+33_2057+34del | ||
| XR_933245.1:n.2057+33_2057+34del | ||
| XR_933246.1:n.2057+33_2057+34del | ||
| XR_933247.1:n.2057+33_2057+34del | ||
| NM_000135.3:c.2014+33_2014+34del | NP_000126.2:n.2014+33_2014+34del | |
| NM_001286167.2:c.2014+33_2014+34del | NP_001273096.1:n.2014+33_2014+34del | |
| XM_005256294.4:c.2014+33_2014+34del | XP_005256351.1:n.2014+33_2014+34del | |
| XM_011522945.2:c.2014+33_2014+34del | XP_011521247.1:n.2014+33_2014+34del | |
| XM_011522946.3:c.991+33_991+34del | XP_011521248.1:n.991+33_991+34del | |
| XM_011522947.2:c.991+33_991+34del | XP_011521249.1:n.991+33_991+34del | |
| XM_011522948.2:c.2014+33_2014+34del | XP_011521250.1:n.2014+33_2014+34del | |
| XM_017023044.2:c.2014+33_2014+34del | XP_016878533.1:n.2014+33_2014+34del | |
| XM_017023045.1:c.2014+33_2014+34del | XP_016878534.1:n.2014+33_2014+34del | |
| XM_024450189.1:c.991+33_991+34del | XP_024305957.1:n.991+33_991+34del | |
| XR_001751866.1:n.2057+33_2057+34del | ||
| XR_933244.2:n.2057+33_2057+34del | ||
| XR_933245.2:n.2057+33_2057+34del | ||
| XR_933247.2:n.2057+33_2057+34del | ||
| NM_000135.4:c.2014+33_2014+34del MANE Select | NP_000126.2:n.2014+33_2014+34del | |
| NM_001286167.3:c.2014+33_2014+34del | NP_001273096.1:n.2014+33_2014+34del |