Linked Data
dbSNP Id:
rs534529439
ExAC:
7:150656845 GC / G
gnomAD v2:
7-150656845-GC-G
gnomAD v3:
7-150959757-GC-G
gnomAD v4:
7-150959757-GC-G
MyVariant Identifiers:
chr7:g.150656846del (hg19)
chr7:g.150959759del (hg38)
chr7:g.150959758del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959762del , CM000669.2:g.150959762del | GRCh38 |
| NC_000007.13:g.150656850del , CM000669.1:g.150656850del | GRCh37 |
| NC_000007.12:g.150287783del | NCBI36 |
| NG_008916.1:g.23169del , LRG_288:g.23169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1119del | ||
| ENST00000262186.10:c.308-22del MANE Select | ENSP00000262186.5:n.308-22del | |
| ENST00000262186.9:c.308-22del | ENSP00000262186.5:n.308-22del | |
| ENST00000430723.4:c.131-22del | ENSP00000387657.4:n.131-22del | |
| ENST00000532957.5:n.531-22del | ||
| NM_000238.3:c.308-22del , LRG_288t1:c.308-22del | NP_000229.1:n.308-22del | |
| NM_172056.2:c.308-22del , LRG_288t2:c.308-22del | NP_742053.1:n.308-22del | |
| XM_011516185.1:c.8-22del | XP_011514487.1:n.8-22del | |
| XM_011516186.1:c.308-22del | XP_011514488.1:n.308-22del | |
| XM_011516185.2:c.8-22del | XP_011514487.1:n.8-22del | |
| XM_011516186.3:c.308-22del | XP_011514488.1:n.308-22del | |
| XM_017012195.1:c.158-22del | XP_016867684.1:n.158-22del | |
| XM_017012196.1:c.131-22del | XP_016867685.1:n.131-22del | |
| NM_000238.4:c.308-22del MANE Select | NP_000229.1:n.308-22del |