Linked Data
dbSNP Id:
rs766532760
ExAC:
7:150643915 CG / C
gnomAD v2:
7-150643915-CG-C
gnomAD v4:
7-150946827-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150946831del , CM000669.2:g.150946831del | GRCh38 |
| NC_000007.13:g.150643919del , CM000669.1:g.150643919del | GRCh37 |
| NC_000007.12:g.150274852del | NCBI36 |
| NG_008916.1:g.36099del , LRG_288:g.36099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.4163+49del | ||
| ENST00000262186.10:c.3330+49del MANE Select | ENSP00000262186.5:n.3330+49del | |
| ENST00000330883.9:c.2310+49del | ENSP00000328531.4:n.2310+49del | |
| ENST00000262186.9:c.3330+49del | ENSP00000262186.5:n.3330+49del | |
| ENST00000330883.8:c.2310+49del | ENSP00000328531.4:n.2310+49del | |
| NM_000238.3:c.3330+49del , LRG_288t1:c.3330+49del | NP_000229.1:n.3330+49del | |
| NM_172057.2:c.2310+49del , LRG_288t3:c.2310+49del | NP_742054.1:n.2310+49del | |
| XM_011516185.1:c.3030+49del | XP_011514487.1:n.3030+49del | |
| XM_011516185.2:c.3030+49del | XP_011514487.1:n.3030+49del | |
| XM_017012195.1:c.3180+49del | XP_016867684.1:n.3180+49del | |
| XM_017012196.1:c.3153+49del | XP_016867685.1:n.3153+49del | |
| NM_000238.4:c.3330+49del MANE Select | NP_000229.1:n.3330+49del | |
| NM_172057.3:c.2310+49del | NP_742054.1:n.2310+49del |