Linked Data
dbSNP Id:
rs368651767
gnomAD v2:
7-66098580-A-ATATT
gnomAD v3:
7-66633593-A-ATATT
gnomAD v4:
7-66633593-A-ATATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66633594_66633595insATTT , CM000669.2:g.66633594_66633595insATTT | GRCh38 |
| NC_000007.13:g.66098581_66098582insATTT , CM000669.1:g.66098581_66098582insATTT | GRCh37 |
| NC_000007.12:g.65736016_65736017insATTT | NCBI36 |
| NG_028110.1:g.9714_9715insATTT | |
| NG_028110.2:g.9714_9715insATTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.314+150_314+151insATTT | ENSP00000275532.4:n.314+150_314+151insATTT | |
| ENST00000449064.6:c.292+150_292+151insATTT | ||
| ENST00000503687.2:c.144+4386_144+4387insATTT | ENSP00000421074.1:n.144+4386_144+4387insATTT | |
| ENST00000638524.1:c.139+4386_139+4387insATTT | ||
| ENST00000638540.1:c.118+4386_118+4387insATTT | ||
| ENST00000639828.2:c.314+150_314+151insATTT MANE Select | ENSP00000492240.1:n.314+150_314+151insATTT | |
| ENST00000639879.1:c.314+150_314+151insATTT | ENSP00000492161.1:n.314+150_314+151insATTT | |
| ENST00000640234.1:c.184+150_184+151insATTT | ||
| ENST00000640385.1:c.314+150_314+151insATTT | ENSP00000491193.1:n.314+150_314+151insATTT | |
| ENST00000640851.1:c.314+150_314+151insATTT | ENSP00000492577.1:n.314+150_314+151insATTT | |
| ENST00000275532.7:c.314+150_314+151insATTT | ENSP00000275532.3:n.314+150_314+151insATTT | |
| ENST00000443322.1:c.314+150_314+151insATTT | ENSP00000411624.1:n.314+150_314+151insATTT | |
| ENST00000449064.5:c.144+4386_144+4387insATTT | ENSP00000388463.1:n.144+4386_144+4387insATTT | |
| ENST00000503687.1:c.144+4386_144+4387insATTT | ENSP00000421074.1:n.144+4386_144+4387insATTT | |
| NM_001167961.2:c.314+150_314+151insATTT | NP_001161433.1:n.314+150_314+151insATTT | |
| NM_153033.4:c.314+150_314+151insATTT | NP_694578.1:n.314+150_314+151insATTT | |
| NM_153033.5:c.314+150_314+151insATTT MANE Select | NP_694578.1:n.314+150_314+151insATTT |