Linked Data
dbSNP Id:
rs1440294760
gnomAD v2:
12-6440009-TTC-T
gnomAD v3:
12-6330843-TTC-T
gnomAD v4:
12-6330843-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6330846_6330847del , CM000674.2:g.6330846_6330847del | GRCh38 |
| NC_000012.11:g.6440012_6440013del , CM000674.1:g.6440012_6440013del | GRCh37 |
| NC_000012.10:g.6310273_6310274del | NCBI36 |
| NG_007506.1:g.16251_16252del , LRG_193:g.16251_16252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.1726+8_1726+9del | ||
| ENST00000437813.8:c.*86+8_*86+9del | ENSP00000513672.1:n.*86+8_*86+9del | |
| ENST00000440083.7:c.844+8_844+9del | ENSP00000413224.3:n.844+8_844+9del | |
| ENST00000535038.2:n.807+8_807+9del | ||
| ENST00000535958.2:c.*452+8_*452+9del | ENSP00000513673.1:n.*452+8_*452+9del | |
| ENST00000698337.1:n.482_483del | ||
| ENST00000698338.1:n.906_907del | ||
| ENST00000698339.1:c.*120+8_*120+9del | ENSP00000513670.1:n.*120+8_*120+9del | |
| ENST00000698340.1:c.552-134_552-133del | ENSP00000513671.1:n.552-134_552-133del | |
| ENST00000162749.7:c.625+8_625+9del MANE Select | ENSP00000162749.2:n.625+8_625+9del | |
| ENST00000162749.6:c.625+8_625+9del | ENSP00000162749.2:n.625+8_625+9del | |
| ENST00000534885.5:c.*102+8_*102+9del | ENSP00000441803.1:n.*102+8_*102+9del | |
| ENST00000535038.1:n.303_304del | ||
| ENST00000536717.5:n.529+8_529+9del | ||
| ENST00000537842.5:n.229+8_229+9del | ||
| ENST00000539372.5:c.625+8_625+9del | ENSP00000442059.1:n.625+8_625+9del | |
| ENST00000540022.5:c.496+8_496+9del | ENSP00000438343.1:n.496+8_496+9del | |
| ENST00000543359.5:n.38-134_38-133del | ||
| ENST00000543995.5:c.*212+8_*212+9del | ENSP00000442405.1:n.*212+8_*212+9del | |
| NM_001065.3:c.625+8_625+9del , LRG_193t1:c.625+8_625+9del | NP_001056.1:n.625+8_625+9del | |
| NM_001346091.1:c.301+8_301+9del | NP_001333020.1:n.301+8_301+9del | |
| NM_001346092.1:c.166+8_166+9del | NP_001333021.1:n.166+8_166+9del | |
| NR_144351.1:n.855-134_855-133del | ||
| NM_001065.4:c.625+8_625+9del MANE Select | NP_001056.1:n.625+8_625+9del | |
| NM_001346091.2:c.301+8_301+9del | NP_001333020.1:n.301+8_301+9del | |
| NM_001346092.2:c.166+8_166+9del | NP_001333021.1:n.166+8_166+9del | |
| NR_144351.2:n.814-134_814-133del |