Linked Data
dbSNP Id:
rs765446986
gnomAD v2:
9-130586755-C-CTGGTCACTGTG
gnomAD v3:
9-127824476-C-CTGGTCACTGTG
gnomAD v4:
9-127824476-C-CTGGTCACTGTG
MyVariant Identifiers:
chr9:g.130586755_130586756insTGGTCACTGTG (hg19)
chr9:g.127824476_127824477insTGGTCACTGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824479_127824489dup , CM000671.2:g.127824479_127824489dup | GRCh38 |
| NC_000009.11:g.130586758_130586768dup , CM000671.1:g.130586758_130586768dup | GRCh37 |
| NC_000009.10:g.129626579_129626589dup | NCBI36 |
| NG_009551.1:g.35282_35292dup , LRG_589:g.35282_35292dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.446-41_446-31dup | ENSP00000479015.1:n.446-41_446-31dup | |
| ENST00000373203.9:c.992-41_992-31dup MANE Select | ENSP00000362299.4:n.992-41_992-31dup | |
| ENST00000344849.4:c.992-41_992-31dup | ENSP00000341917.3:n.992-41_992-31dup | |
| ENST00000373203.8:c.992-41_992-31dup | ENSP00000362299.4:n.992-41_992-31dup | |
| ENST00000480266.5:c.446-41_446-31dup | ENSP00000479015.1:n.446-41_446-31dup | |
| NM_000118.3:c.992-41_992-31dup , LRG_589t1:c.992-41_992-31dup | NP_000109.1:n.992-41_992-31dup | |
| NM_001114753.2:c.992-41_992-31dup , LRG_589t2:c.992-41_992-31dup | NP_001108225.1:n.992-41_992-31dup | |
| NM_001278138.1:c.446-41_446-31dup | NP_001265067.1:n.446-41_446-31dup | |
| NM_001114753.3:c.992-41_992-31dup MANE Select | NP_001108225.1:n.992-41_992-31dup | |
| NM_001278138.2:c.446-41_446-31dup | NP_001265067.1:n.446-41_446-31dup |