Linked Data
ClinVar Variation Id:
1046011
ClinVar RCV Id:
RCV001350512
dbSNP Id:
rs767910122
ExAC:
7:150645534 T / TGTCCG
gnomAD v2:
7-150645534-T-TGTCCG
gnomAD v3:
7-150948446-T-TGTCCG
gnomAD v4:
7-150948446-T-TGTCCG
MyVariant Identifiers:
chr7:g.150645534_150645535insGTCCG (hg19)
chr7:g.150948446_150948447insGTCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948446_150948447insGTCCG , CM000669.2:g.150948446_150948447insGTCCG | GRCh38 |
| NC_000007.13:g.150645534_150645535insGTCCG , CM000669.1:g.150645534_150645535insGTCCG | GRCh37 |
| NC_000007.12:g.150276467_150276468insGTCCG | NCBI36 |
| NG_008916.1:g.34480_34481insCGGAC , LRG_288:g.34480_34481insCGGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3522_3523insCGGAC | ||
| ENST00000262186.10:c.2689_2690insCGGAC MANE Select | ENSP00000262186.5:p.Lys897ThrfsTer? | |
| ENST00000330883.9:c.1669_1670insCGGAC | ENSP00000328531.4:p.Lys557ThrfsTer? | |
| ENST00000262186.9:c.2689_2690insCGGAC | ENSP00000262186.5:p.Lys897ThrfsTer? | |
| ENST00000330883.8:c.1669_1670insCGGAC | ENSP00000328531.4:p.Lys557ThrfsTer? | |
| NM_000238.3:c.2689_2690insCGGAC , LRG_288t1:c.2689_2690insCGGAC | NP_000229.1:p.Lys897ThrfsTer? | |
| NM_172057.2:c.1669_1670insCGGAC , LRG_288t3:c.1669_1670insCGGAC | NP_742054.1:p.Lys557ThrfsTer? | |
| XM_011516185.1:c.2389_2390insCGGAC | XP_011514487.1:p.Lys797ThrfsTer? | |
| XM_011516186.1:c.2689_2690insCGGAC | XP_011514488.1:p.Lys897ThrfsTer? | |
| XM_011516185.2:c.2389_2390insCGGAC | XP_011514487.1:p.Lys797ThrfsTer? | |
| XM_011516186.3:c.2689_2690insCGGAC | XP_011514488.1:p.Lys897ThrfsTer? | |
| XM_017012195.1:c.2539_2540insCGGAC | XP_016867684.1:p.Lys847ThrfsTer? | |
| XM_017012196.1:c.2512_2513insCGGAC | XP_016867685.1:p.Lys838ThrfsTer? | |
| NM_000238.4:c.2689_2690insCGGAC MANE Select | NP_000229.1:p.Lys897ThrfsTer? | |
| NM_172057.3:c.1669_1670insCGGAC | NP_742054.1:p.Lys557ThrfsTer? |