Linked Data
ClinVar Variation Id:
200658
ClinVar RCV Id:
RCV000181986
dbSNP Id:
rs794728448
MyVariant Identifiers:
chr7:g.150645533_150645534delinsG (hg19)
chr7:g.150948445_150948446delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948445_150948446delinsG , CM000669.2:g.150948445_150948446delinsG | GRCh38 |
| NC_000007.13:g.150645533_150645534delinsG , CM000669.1:g.150645533_150645534delinsG | GRCh37 |
| NC_000007.12:g.150276466_150276467delinsG | NCBI36 |
| NG_008916.1:g.34481_34482delinsC , LRG_288:g.34481_34482delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3523_3524delinsC | ||
| ENST00000262186.10:c.2690_2691delinsC MANE Select | ENSP00000262186.5:p.Lys897ThrfsTer? | |
| ENST00000330883.9:c.1670_1671delinsC | ENSP00000328531.4:p.Lys557ThrfsTer? | |
| ENST00000262186.9:c.2690_2691delinsC | ENSP00000262186.5:p.Lys897ThrfsTer? | |
| ENST00000330883.8:c.1670_1671delinsC | ENSP00000328531.4:p.Lys557ThrfsTer? | |
| NM_000238.3:c.2690_2691delinsC , LRG_288t1:c.2690_2691delinsC | NP_000229.1:p.Lys897ThrfsTer? | |
| NM_172057.2:c.1670_1671delinsC , LRG_288t3:c.1670_1671delinsC | NP_742054.1:p.Lys557ThrfsTer? | |
| XM_011516185.1:c.2390_2391delinsC | XP_011514487.1:p.Lys797ThrfsTer? | |
| XM_011516186.1:c.2690_2691delinsC | XP_011514488.1:p.Lys897ThrfsTer? | |
| XM_011516185.2:c.2390_2391delinsC | XP_011514487.1:p.Lys797ThrfsTer? | |
| XM_011516186.3:c.2690_2691delinsC | XP_011514488.1:p.Lys897ThrfsTer? | |
| XM_017012195.1:c.2540_2541delinsC | XP_016867684.1:p.Lys847ThrfsTer? | |
| XM_017012196.1:c.2513_2514delinsC | XP_016867685.1:p.Lys838ThrfsTer? | |
| NM_000238.4:c.2690_2691delinsC MANE Select | NP_000229.1:p.Lys897ThrfsTer? | |
| NM_172057.3:c.1670_1671delinsC | NP_742054.1:p.Lys557ThrfsTer? |