Linked Data
dbSNP Id:
rs1830573854
gnomAD v3:
9-127825068-T-TGTCCCCACTCCTGCTGC
gnomAD v4:
9-127825068-T-TGTCCCCACTCCTGCTGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825072_127825088dup , CM000671.2:g.127825072_127825088dup | GRCh38 |
| NC_000009.11:g.130587351_130587367dup , CM000671.1:g.130587351_130587367dup | GRCh37 |
| NC_000009.10:g.129627172_129627188dup | NCBI36 |
| NG_009551.1:g.34684_34700dup , LRG_589:g.34684_34700dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.271-111_271-95dup | ENSP00000479015.1:n.271-111_271-95dup | |
| ENST00000373203.9:c.817-111_817-95dup MANE Select | ENSP00000362299.4:n.817-111_817-95dup | |
| ENST00000344849.4:c.817-111_817-95dup | ENSP00000341917.3:n.817-111_817-95dup | |
| ENST00000373203.8:c.817-111_817-95dup | ENSP00000362299.4:n.817-111_817-95dup | |
| ENST00000480266.5:c.271-111_271-95dup | ENSP00000479015.1:n.271-111_271-95dup | |
| NM_000118.3:c.817-111_817-95dup , LRG_589t1:c.817-111_817-95dup | NP_000109.1:n.817-111_817-95dup | |
| NM_001114753.2:c.817-111_817-95dup , LRG_589t2:c.817-111_817-95dup | NP_001108225.1:n.817-111_817-95dup | |
| NM_001278138.1:c.271-111_271-95dup | NP_001265067.1:n.271-111_271-95dup | |
| NM_001114753.3:c.817-111_817-95dup MANE Select | NP_001108225.1:n.817-111_817-95dup | |
| NM_001278138.2:c.271-111_271-95dup | NP_001265067.1:n.271-111_271-95dup |