Linked Data
dbSNP Id:
rs57599653
gnomAD v3:
9-134843155-C-CTT
gnomAD v4:
9-134843155-C-CTT
MyVariant Identifiers:
chr9:g.137735001_137735002insTT (hg19)
chr9:g.134843155_134843156insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134843167_134843168dup , CM000671.2:g.134843167_134843168dup | GRCh38 |
| NC_000009.11:g.137735013_137735014dup , CM000671.1:g.137735013_137735014dup | GRCh37 |
| NC_000009.10:g.136874834_136874835dup | NCBI36 |
| NG_008030.1:g.206362_206363dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*864_*865dup | ENSP00000360885.4:n.*864_*865dup | |
| ENST00000371817.8:c.*864_*865dup MANE Select | ENSP00000360882.3:n.*864_*865dup | |
| ENST00000371817.7:c.*864_*865dup | ENSP00000360882.3:n.*864_*865dup | |
| ENST00000618395.4:c.*864_*865dup | ENSP00000481360.1:n.*864_*865dup | |
| NM_000093.4:c.*864_*865dup | NP_000084.3:n.*864_*865dup | |
| NM_001278074.1:c.*864_*865dup | NP_001265003.1:n.*864_*865dup | |
| NR_103451.2:n.71-22948_71-22947dup | ||
| NM_000093.5:c.*864_*865dup MANE Select | NP_000084.3:n.*864_*865dup |