Linked Data
dbSNP Id:
rs1276418442
gnomAD v2:
1-116273763-C-CACTT
gnomAD v3:
1-115731142-C-CACTT
gnomAD v4:
1-115731142-C-CACTT
MyVariant Identifiers:
chr1:g.116273763_116273764insACTT (hg19)
chr1:g.115731142_115731143insACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115731144_115731147dup , CM000663.2:g.115731144_115731147dup | GRCh38 |
| NC_000001.10:g.116273765_116273768dup , CM000663.1:g.116273765_116273768dup | GRCh37 |
| NC_000001.9:g.116075288_116075291dup | NCBI36 |
| NG_008802.1:g.42660_42663dup , LRG_404:g.42660_42663dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.425+968_425+971dup | ENSP00000518226.1:n.425+968_425+971dup | |
| ENST00000261448.6:c.606+1755_606+1758dup MANE Select | ENSP00000261448.5:n.606+1755_606+1758dup | |
| ENST00000261448.5:c.606+1755_606+1758dup | ENSP00000261448.5:n.606+1755_606+1758dup | |
| ENST00000488931.1:n.122+968_122+971dup | ||
| NM_001232.3:c.606+1755_606+1758dup , LRG_404t1:c.606+1755_606+1758dup | NP_001223.2:n.606+1755_606+1758dup | |
| NM_001232.4:c.606+1755_606+1758dup MANE Select | NP_001223.2:n.606+1755_606+1758dup |