Linked Data
ClinVar Variation Id:
402997
dbSNP Id:
rs1060499872
gnomAD v2:
7-150644467-G-GGCC
gnomAD v3:
7-150947379-G-GGCC
gnomAD v4:
7-150947379-G-GGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947384_150947386dup , CM000669.2:g.150947384_150947386dup | GRCh38 |
| NC_000007.13:g.150644472_150644474dup , CM000669.1:g.150644472_150644474dup | GRCh37 |
| NC_000007.12:g.150275405_150275407dup | NCBI36 |
| NG_008916.1:g.35545_35547dup , LRG_288:g.35545_35547dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3931_3933dup | ||
| ENST00000262186.10:c.3098_3100dup MANE Select | ENSP00000262186.5:p.Arg1033_Pro1034insArg | |
| ENST00000330883.9:c.2078_2080dup | ENSP00000328531.4:p.Arg693_Pro694insArg | |
| ENST00000262186.9:c.3098_3100dup | ENSP00000262186.5:p.Arg1033_Pro1034insArg | |
| ENST00000330883.8:c.2078_2080dup | ENSP00000328531.4:p.Arg693_Pro694insArg | |
| NM_000238.3:c.3098_3100dup , LRG_288t1:c.3098_3100dup | NP_000229.1:p.Arg1033_Pro1034insArg | |
| NM_172057.2:c.2078_2080dup , LRG_288t3:c.2078_2080dup | NP_742054.1:p.Arg693_Pro694insArg | |
| XM_011516185.1:c.2798_2800dup | XP_011514487.1:p.Arg933_Pro934insArg | |
| XM_011516185.2:c.2798_2800dup | XP_011514487.1:p.Arg933_Pro934insArg | |
| XM_017012195.1:c.2948_2950dup | XP_016867684.1:p.Arg983_Pro984insArg | |
| XM_017012196.1:c.2921_2923dup | XP_016867685.1:p.Arg974_Pro975insArg | |
| NM_000238.4:c.3098_3100dup MANE Select | NP_000229.1:p.Arg1033_Pro1034insArg | |
| NM_172057.3:c.2078_2080dup | NP_742054.1:p.Arg693_Pro694insArg |