Linked Data
dbSNP Id:
rs755921614
ExAC:
7:150671754 CTT / C
gnomAD v2:
7-150671754-CTT-C
gnomAD v4:
7-150974666-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974667_150974668del , CM000669.2:g.150974667_150974668del | GRCh38 |
| NC_000007.13:g.150671755_150671756del , CM000669.1:g.150671755_150671756del | GRCh37 |
| NC_000007.12:g.150302688_150302689del | NCBI36 |
| NG_008916.1:g.8259_8260del , LRG_288:g.8259_8260del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.307+43_307+44del MANE Select | ENSP00000262186.5:n.307+43_307+44del | |
| ENST00000262186.9:c.307+43_307+44del | ENSP00000262186.5:n.307+43_307+44del | |
| ENST00000430723.4:c.130+43_130+44del | ENSP00000387657.4:n.130+43_130+44del | |
| ENST00000532957.5:n.530+43_530+44del | ||
| NM_000238.3:c.307+43_307+44del , LRG_288t1:c.307+43_307+44del | NP_000229.1:n.307+43_307+44del | |
| NM_172056.2:c.307+43_307+44del , LRG_288t2:c.307+43_307+44del | NP_742053.1:n.307+43_307+44del | |
| XM_011516186.1:c.307+43_307+44del | XP_011514488.1:n.307+43_307+44del | |
| XM_011516186.3:c.307+43_307+44del | XP_011514488.1:n.307+43_307+44del | |
| XM_017012196.1:c.130+43_130+44del | XP_016867685.1:n.130+43_130+44del | |
| NM_000238.4:c.307+43_307+44del MANE Select | NP_000229.1:n.307+43_307+44del |