Linked Data
dbSNP Id:
rs576012991
gnomAD v2:
2-39249526-GTATT-G
gnomAD v3:
2-39022385-GTATT-G
gnomAD v4:
2-39022385-GTATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022388_39022391del , CM000664.2:g.39022388_39022391del | GRCh38 |
| NC_000002.11:g.39249529_39249532del , CM000664.1:g.39249529_39249532del | GRCh37 |
| NC_000002.10:g.39103033_39103036del | NCBI36 |
| NG_007530.1:g.103075_103078del , LRG_754:g.103075_103078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1919_1922del | ||
| ENST00000685279.1:c.625+181_625+184del | ENSP00000509424.1:n.625+181_625+184del | |
| ENST00000688043.1:n.2079+181_2079+184del | ||
| ENST00000689668.1:n.1865+181_1865+184del | ||
| ENST00000690876.1:c.1747+181_1747+184del | ENSP00000508955.1:n.1747+181_1747+184del | |
| ENST00000691229.1:c.1747+181_1747+184del | ENSP00000510437.1:n.1747+181_1747+184del | |
| ENST00000692089.1:c.1747+181_1747+184del | ENSP00000508626.1:n.1747+181_1747+184del | |
| ENST00000692620.1:c.625+181_625+184del | ENSP00000509311.1:n.625+181_625+184del | |
| ENST00000402219.8:c.1858+181_1858+184del MANE Select | ENSP00000384675.2:n.1858+181_1858+184del | |
| ENST00000395038.6:c.1858+181_1858+184del | ENSP00000378479.2:n.1858+181_1858+184del | |
| ENST00000402219.6:c.1858+181_1858+184del | ENSP00000384675.2:n.1858+181_1858+184del | |
| ENST00000426016.5:c.1858+181_1858+184del | ENSP00000387784.1:n.1858+181_1858+184del | |
| NM_005633.3:c.1858+181_1858+184del , LRG_754t1:c.1858+181_1858+184del | NP_005624.2:n.1858+181_1858+184del | |
| XM_005264515.3:c.1858+181_1858+184del | XP_005264572.1:n.1858+181_1858+184del | |
| XM_011533060.1:c.1951+181_1951+184del | XP_011531362.1:n.1951+181_1951+184del | |
| XM_011533061.1:c.1951+181_1951+184del | XP_011531363.1:n.1951+181_1951+184del | |
| XM_011533062.1:c.1837+181_1837+184del | XP_011531364.1:n.1837+181_1837+184del | |
| XM_011533063.1:c.1834+181_1834+184del | XP_011531365.1:n.1834+181_1834+184del | |
| XM_011533064.1:c.1687+181_1687+184del | XP_011531366.1:n.1687+181_1687+184del | |
| XM_011533065.1:c.1951+181_1951+184del | XP_011531367.1:n.1951+181_1951+184del | |
| XM_011533066.1:c.793+181_793+184del | XP_011531368.1:n.793+181_793+184del | |
| XM_005264515.4:c.1858+181_1858+184del | XP_005264572.1:n.1858+181_1858+184del | |
| XM_011533062.2:c.1837+181_1837+184del | XP_011531364.1:n.1837+181_1837+184del | |
| XM_011533064.2:c.1687+181_1687+184del | XP_011531366.1:n.1687+181_1687+184del | |
| NM_001382394.1:c.1837+181_1837+184del | NP_001369323.1:n.1837+181_1837+184del | |
| NM_001382395.1:c.1858+181_1858+184del | NP_001369324.1:n.1858+181_1858+184del | |
| NM_005633.4:c.1858+181_1858+184del MANE Select | NP_005624.2:n.1858+181_1858+184del |