Linked Data
dbSNP Id:
rs1172394120
gnomAD v2:
11-116703363-T-TGAGA
gnomAD v3:
11-116832647-T-TGAGA
gnomAD v4:
11-116832647-T-TGAGA
MyVariant Identifiers:
chr11:g.116703363_116703364insGAGA (hg19)
chr11:g.116832647_116832648insGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832649_116832652dup , CM000673.2:g.116832649_116832652dup | GRCh38 |
| NC_000011.9:g.116703365_116703368dup , CM000673.1:g.116703365_116703368dup | GRCh37 |
| NC_000011.8:g.116208575_116208578dup | NCBI36 |
| NG_008949.1:g.7742_7745dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.180-115_180-112dup MANE Select | ENSP00000227667.2:n.180-115_180-112dup | |
| ENST00000227667.7:c.180-115_180-112dup | ENSP00000227667.2:n.180-115_180-112dup | |
| ENST00000375345.3:c.234-115_234-112dup | ENSP00000364494.1:n.234-115_234-112dup | |
| ENST00000630701.1:c.234-115_234-112dup | ENSP00000486182.1:n.234-115_234-112dup | |
| NM_000040.1:c.180-115_180-112dup | NP_000031.1:n.180-115_180-112dup | |
| NM_000040.2:c.180-115_180-112dup | NP_000031.1:n.180-115_180-112dup | |
| NM_000040.3:c.180-115_180-112dup MANE Select | NP_000031.1:n.180-115_180-112dup |