Linked Data
dbSNP Id:
rs1464362439
gnomAD v2:
11-121177663-C-CTACAGGA
gnomAD v3:
11-121306954-C-CTACAGGA
gnomAD v4:
11-121306954-C-CTACAGGA
MyVariant Identifiers:
chr11:g.121177663_121177664insTACAGGA (hg19)
chr11:g.121306954_121306955insTACAGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121306956_121306962dup , CM000673.2:g.121306956_121306962dup | GRCh38 |
| NC_000011.9:g.121177665_121177671dup , CM000673.1:g.121177665_121177671dup | GRCh37 |
| NC_000011.8:g.120682875_120682881dup | NCBI36 |
| NG_009446.1:g.19278_19284dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.445-101_445-95dup MANE Select | ENSP00000264027.4:n.445-101_445-95dup | |
| ENST00000264027.8:c.445-101_445-95dup | ENSP00000264027.4:n.445-101_445-95dup | |
| ENST00000392789.2:c.445-101_445-95dup | ENSP00000376539.2:n.445-101_445-95dup | |
| ENST00000527183.1:n.738-101_738-95dup | ||
| ENST00000527762.5:c.466-101_466-95dup | ENSP00000436290.1:n.466-101_466-95dup | |
| ENST00000528991.1:n.138-101_138-95dup | ||
| ENST00000534230.5:c.445-101_445-95dup | ENSP00000432550.1:n.445-101_445-95dup | |
| NM_001024956.2:c.445-101_445-95dup | NP_001020127.1:n.445-101_445-95dup | |
| NM_006918.4:c.445-101_445-95dup | NP_008849.2:n.445-101_445-95dup | |
| NM_006918.5:c.445-101_445-95dup MANE Select | NP_008849.2:n.445-101_445-95dup | |
| NM_001024956.3:c.445-101_445-95dup | NP_001020127.1:n.445-101_445-95dup |