Linked Data
dbSNP Id:
rs1399804251
MyVariant Identifiers:
chr7:g.150645531_150645532insCCGTGT (hg19)
chr7:g.150948443_150948444insCCGTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948445_150948446insGTGTCC , CM000669.2:g.150948445_150948446insGTGTCC | GRCh38 |
| NC_000007.13:g.150645533_150645534insGTGTCC , CM000669.1:g.150645533_150645534insGTGTCC | GRCh37 |
| NC_000007.12:g.150276466_150276467insGTGTCC | NCBI36 |
| NG_008916.1:g.34483_34484insACACGG , LRG_288:g.34483_34484insACACGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3525_3525+1insACACGG | ||
| ENST00000262186.10:c.2692_2692+1insACACGG MANE Select | ENSP00000262186.5:p.Asp898_Thr899insThrAsp | |
| ENST00000330883.9:c.1672_1672+1insACACGG | ENSP00000328531.4:p.Asp558_Thr559insThrAsp | |
| ENST00000262186.9:c.2692_2692+1insACACGG | ENSP00000262186.5:p.Asp898_Thr899insThrAsp | |
| ENST00000330883.8:c.1672_1672+1insACACGG | ENSP00000328531.4:p.Asp558_Thr559insThrAsp | |
| NM_000238.3:c.2692_2692+1insACACGG , LRG_288t1:c.2692_2692+1insACACGG | NP_000229.1:p.Asp898_Thr899insThrAsp | |
| NM_172057.2:c.1672_1672+1insACACGG , LRG_288t3:c.1672_1672+1insACACGG | NP_742054.1:p.Asp558_Thr559insThrAsp | |
| XM_011516185.1:c.2392_2392+1insACACGG | XP_011514487.1:p.Asp798_Thr799insThrAsp | |
| XM_011516186.1:c.2692_2692+1insACACGG | XP_011514488.1:p.Lys897_Ala898insAspThr | |
| XM_011516185.2:c.2392_2392+1insACACGG | XP_011514487.1:p.Asp798_Thr799insThrAsp | |
| XM_011516186.3:c.2692_2692+1insACACGG | XP_011514488.1:p.Lys897_Ala898insAspThr | |
| XM_017012195.1:c.2542_2542+1insACACGG | XP_016867684.1:p.Asp848_Thr849insThrAsp | |
| XM_017012196.1:c.2515_2515+1insACACGG | XP_016867685.1:p.Asp839_Thr840insThrAsp | |
| NM_000238.4:c.2692_2692+1insACACGG MANE Select | NP_000229.1:p.Asp898_Thr899insThrAsp | |
| NM_172057.3:c.1672_1672+1insACACGG | NP_742054.1:p.Asp558_Thr559insThrAsp |