Linked Data
ClinVar Variation Id:
968812
ClinVar RCV Id:
RCV001244032
dbSNP Id:
rs1339191406
gnomAD v4:
10-119670131-T-TGGC
MyVariant Identifiers:
chr10:g.121429643_121429644insGGC (hg19)
chr10:g.119670131_119670132insGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670132_119670134dup , CM000672.2:g.119670132_119670134dup | GRCh38 |
| NC_000010.10:g.121429644_121429646dup , CM000672.1:g.121429644_121429646dup | GRCh37 |
| NC_000010.9:g.121419634_121419636dup | NCBI36 |
| NG_016125.1:g.23763_23765dup , LRG_742:g.23763_23765dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.462_464dup MANE Select | ENSP00000358081.4:p.Ala155_Ala156insAla | |
| ENST00000369085.7:c.462_464dup | ENSP00000358081.3:p.Ala155_Ala156insAla | |
| ENST00000450186.1:c.288_290dup | ENSP00000410036.1:p.Ala97_Ala98insAla | |
| NM_004281.3:c.462_464dup , LRG_742t1:c.462_464dup | NP_004272.2:p.Ala155_Ala156insAla | |
| XM_005270287.1:c.462_464dup | XP_005270344.1:p.Ala155_Ala156insAla | |
| XM_005270287.2:c.462_464dup | XP_005270344.1:p.Ala155_Ala156insAla | |
| NM_004281.4:c.462_464dup MANE Select | NP_004272.2:p.Ala155_Ala156insAla |