Linked Data
dbSNP Id:
rs1448996552
gnomAD v3:
10-119669691-G-GT
gnomAD v4:
10-119669691-G-GT
MyVariant Identifiers:
chr10:g.121429203_121429204insT (hg19)
chr10:g.119669691_119669692insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119669692dup , CM000672.2:g.119669692dup | GRCh38 |
| NC_000010.10:g.121429204dup , CM000672.1:g.121429204dup | GRCh37 |
| NC_000010.9:g.121419194dup | NCBI36 |
| NG_016125.1:g.23323dup , LRG_742:g.23323dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.181-159dup MANE Select | ENSP00000358081.4:n.181-159dup | |
| ENST00000369085.7:c.181-159dup | ENSP00000358081.3:n.181-159dup | |
| ENST00000450186.1:c.7-159dup | ENSP00000410036.1:n.7-159dup | |
| NM_004281.3:c.181-159dup , LRG_742t1:c.181-159dup | NP_004272.2:n.181-159dup | |
| XM_005270287.1:c.181-159dup | XP_005270344.1:n.181-159dup | |
| XM_005270287.2:c.181-159dup | XP_005270344.1:n.181-159dup | |
| NM_004281.4:c.181-159dup MANE Select | NP_004272.2:n.181-159dup |