Linked Data
dbSNP Id:
rs762305602
ExAC:
7:150645533 C / CG
gnomAD v2:
7-150645533-C-CG
gnomAD v3:
7-150948445-C-CG
gnomAD v4:
7-150948445-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948445_150948446insG , CM000669.2:g.150948445_150948446insG | GRCh38 |
| NC_000007.13:g.150645533_150645534insG , CM000669.1:g.150645533_150645534insG | GRCh37 |
| NC_000007.12:g.150276466_150276467insG | NCBI36 |
| NG_008916.1:g.34481_34482insC , LRG_288:g.34481_34482insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3523_3524insC | ||
| ENST00000262186.10:c.2690_2691insC MANE Select | ENSP00000262186.5:p.Lys897AsnfsTer23 | |
| ENST00000330883.9:c.1670_1671insC | ENSP00000328531.4:p.Lys557AsnfsTer23 | |
| ENST00000262186.9:c.2690_2691insC | ENSP00000262186.5:p.Lys897AsnfsTer23 | |
| ENST00000330883.8:c.1670_1671insC | ENSP00000328531.4:p.Lys557AsnfsTer23 | |
| NM_000238.3:c.2690_2691insC , LRG_288t1:c.2690_2691insC | NP_000229.1:p.Lys897AsnfsTer23 | |
| NM_172057.2:c.1670_1671insC , LRG_288t3:c.1670_1671insC | NP_742054.1:p.Lys557AsnfsTer23 | |
| XM_011516185.1:c.2390_2391insC | XP_011514487.1:p.Lys797AsnfsTer23 | |
| XM_011516186.1:c.2690_2691insC | XP_011514488.1:p.Lys897AsnfsTer? | |
| XM_011516185.2:c.2390_2391insC | XP_011514487.1:p.Lys797AsnfsTer23 | |
| XM_011516186.3:c.2690_2691insC | XP_011514488.1:p.Lys897AsnfsTer? | |
| XM_017012195.1:c.2540_2541insC | XP_016867684.1:p.Lys847AsnfsTer23 | |
| XM_017012196.1:c.2513_2514insC | XP_016867685.1:p.Lys838AsnfsTer23 | |
| NM_000238.4:c.2690_2691insC MANE Select | NP_000229.1:p.Lys897AsnfsTer23 | |
| NM_172057.3:c.1670_1671insC | NP_742054.1:p.Lys557AsnfsTer23 |