Linked Data
dbSNP Id:
rs1444485831
gnomAD v2:
6-157150326-GAATTAATA-G
gnomAD v3:
6-156829192-GAATTAATA-G
gnomAD v4:
6-156829192-GAATTAATA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.156829195_156829202del , CM000668.2:g.156829195_156829202del | GRCh38 |
| NC_000006.11:g.157150329_157150336del , CM000668.1:g.157150329_157150336del | GRCh37 |
| NC_000006.10:g.157192021_157192028del | NCBI36 |
| NG_032093.1:g.56266_56273del | |
| NG_032093.2:g.56266_56273del | |
| NG_066624.1:g.58170_58177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.1792-32_1792-25del | ENSP00000055163.8:n.1792-32_1792-25del | |
| ENST00000414678.8:c.1792-32_1792-25del | ENSP00000412835.3:n.1792-32_1792-25del | |
| ENST00000637015.2:c.1792-32_1792-25del | ENSP00000489729.2:n.1792-32_1792-25del | |
| ENST00000346085.10:c.1792-32_1792-25del | ENSP00000344546.5:n.1792-32_1792-25del | |
| ENST00000350026.10:c.1543-32_1543-25del | ENSP00000055163.7:n.1543-32_1543-25del | |
| ENST00000414678.7:c.40-32_40-25del | ENSP00000412835.2:n.40-32_40-25del | |
| ENST00000494260.2:c.73-32_73-25del | ENSP00000490094.1:n.73-32_73-25del | |
| ENST00000636607.1:c.55-32_55-25del | ENSP00000490050.1:n.55-32_55-25del | |
| ENST00000636748.1:c.73-32_73-25del | ENSP00000489917.1:n.73-32_73-25del | |
| ENST00000636930.2:c.1792-32_1792-25del MANE Select | ENSP00000490491.2:n.1792-32_1792-25del | |
| ENST00000637910.1:n.73-32_73-25del | ||
| ENST00000638000.1:c.9-32_9-25del | ||
| ENST00000647938.1:c.1543-32_1543-25del | ENSP00000498155.1:n.1543-32_1543-25del | |
| ENST00000674190.1:n.499-32_499-25del | ||
| ENST00000674298.1:c.1532-32_1532-25del | ||
| ENST00000346085.9:c.1543-32_1543-25del | ENSP00000344546.4:n.1543-32_1543-25del | |
| ENST00000350026.9:c.1543-32_1543-25del | ENSP00000055163.7:n.1543-32_1543-25del | |
| ENST00000414678.6:c.40-32_40-25del | ENSP00000412835.2:n.40-32_40-25del | |
| NM_017519.2:c.1543-32_1543-25del | NP_059989.2:n.1543-32_1543-25del | |
| NM_020732.3:c.1543-32_1543-25del | NP_065783.3:n.1543-32_1543-25del | |
| XM_005267069.3:c.1543-32_1543-25del | XP_005267126.2:n.1543-32_1543-25del | |
| XM_011535984.1:c.412-32_412-25del | XP_011534286.1:n.412-32_412-25del | |
| XM_011535985.1:c.412-32_412-25del | XP_011534287.1:n.412-32_412-25del | |
| XM_011535986.1:c.-9-32_-9-25del | XP_011534288.1:n.-9-32_-9-25del | |
| NM_001346813.1:c.1543-32_1543-25del | NP_001333742.1:n.1543-32_1543-25del | |
| XM_011535984.2:c.1543-32_1543-25del | XP_011534286.2:n.1543-32_1543-25del | |
| XM_017011103.2:c.1543-32_1543-25del | XP_016866592.1:n.1543-32_1543-25del | |
| XM_017011104.1:c.1543-32_1543-25del | XP_016866593.1:n.1543-32_1543-25del | |
| XM_017011105.2:c.1543-32_1543-25del | XP_016866594.1:n.1543-32_1543-25del | |
| XM_017011106.2:c.1543-32_1543-25del | XP_016866595.1:n.1543-32_1543-25del | |
| XM_017011107.2:c.1543-32_1543-25del | XP_016866596.1:n.1543-32_1543-25del | |
| XR_002956289.1:n.1626-32_1626-25del | ||
| NM_001371656.1:c.1792-32_1792-25del | NP_001358585.1:n.1792-32_1792-25del | |
| NM_001374820.1:c.1792-32_1792-25del | NP_001361749.1:n.1792-32_1792-25del | |
| NM_001374828.1:c.1792-32_1792-25del MANE Select | NP_001361757.1:n.1792-32_1792-25del | |
| NM_017519.3:c.1792-32_1792-25del | NP_059989.3:n.1792-32_1792-25del |