Linked Data
ClinVar Variation Id:
200614
ClinVar RCV Id:
RCV001842844
dbSNP Id:
rs794728426
MyVariant Identifiers:
chr7:g.150655251_150655254delinsGCTTTT (hg19)
chr7:g.150958163_150958166delinsGCTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958163_150958166delinsGCTTTT , CM000669.2:g.150958163_150958166delinsGCTTTT | GRCh38 |
| NC_000007.13:g.150655251_150655254delinsGCTTTT , CM000669.1:g.150655251_150655254delinsGCTTTT | GRCh37 |
| NC_000007.12:g.150286184_150286187delinsGCTTTT | NCBI36 |
| NG_008916.1:g.24761_24764delinsAAAAGC , LRG_288:g.24761_24764delinsAAAAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.1642_1645delinsAAAAGC | ||
| ENST00000262186.10:c.809_812delinsAAAAGC MANE Select | ENSP00000262186.5:p.Thr270LysfsTer? | |
| ENST00000262186.9:c.809_812delinsAAAAGC | ENSP00000262186.5:p.Thr270LysfsTer? | |
| ENST00000430723.4:c.461_464delinsAAAAGC | ENSP00000387657.4:p.Thr154LysfsTer? | |
| ENST00000532957.5:n.1032_1035delinsAAAAGC | ||
| NM_000238.3:c.809_812delinsAAAAGC , LRG_288t1:c.809_812delinsAAAAGC | NP_000229.1:p.Thr270LysfsTer? | |
| NM_172056.2:c.809_812delinsAAAAGC , LRG_288t2:c.809_812delinsAAAAGC | NP_742053.1:p.Thr270LysfsTer? | |
| XM_011516185.1:c.509_512delinsAAAAGC | XP_011514487.1:p.Thr170LysfsTer? | |
| XM_011516186.1:c.809_812delinsAAAAGC | XP_011514488.1:p.Thr270LysfsTer? | |
| XM_011516185.2:c.509_512delinsAAAAGC | XP_011514487.1:p.Thr170LysfsTer? | |
| XM_011516186.3:c.809_812delinsAAAAGC | XP_011514488.1:p.Thr270LysfsTer? | |
| XM_017012195.1:c.659_662delinsAAAAGC | XP_016867684.1:p.Thr220LysfsTer? | |
| XM_017012196.1:c.632_635delinsAAAAGC | XP_016867685.1:p.Thr211LysfsTer? | |
| NM_000238.4:c.809_812delinsAAAAGC MANE Select | NP_000229.1:p.Thr270LysfsTer? |