Linked Data
dbSNP Id:
rs1298601813
gnomAD v2:
11-116706771-T-TGCGTGCGCAGCGCGTCCACATGG
gnomAD v4:
11-116836055-T-TGCGTGCGCAGCGCGTCCACATGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836059_116836081dup , CM000673.2:g.116836059_116836081dup | GRCh38 |
| NC_000011.9:g.116706775_116706797dup , CM000673.1:g.116706775_116706797dup | GRCh37 |
| NC_000011.8:g.116211985_116212007dup | NCBI36 |
| NG_012021.1:g.6545_6567dup , LRG_767:g.6545_6567dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.534_556dup MANE Select | ENSP00000236850.3:p.His186ProfsTer? | |
| ENST00000236850.4:c.534_556dup | ENSP00000236850.3:p.His186ProfsTer? | |
| ENST00000359492.6:c.534_556dup | ENSP00000352471.2:p.His186ProfsTer? | |
| ENST00000375320.5:c.534_556dup | ENSP00000364469.1:p.His186ProfsTer? | |
| ENST00000375323.5:c.534_556dup | ENSP00000364472.1:p.His186ProfsTer? | |
| ENST00000375329.6:c.468_490dup | ENSP00000364478.2:p.His164ProfsTer? | |
| NM_000039.1:c.534_556dup , LRG_767t1:c.534_556dup | NP_000030.1:p.His186ProfsTer? | |
| XM_005271539.2:c.534_556dup | XP_005271596.1:p.His186ProfsTer? | |
| XM_005271540.1:c.534_556dup | XP_005271597.1:p.His186ProfsTer? | |
| NM_000039.2:c.534_556dup | NP_000030.1:p.His186ProfsTer? | |
| NM_001318017.1:c.534_556dup | NP_001304946.1:p.His186ProfsTer? | |
| NM_001318018.1:c.534_556dup | NP_001304947.1:p.His186ProfsTer? | |
| NM_001318021.1:c.207_229dup | NP_001304950.1:p.His77ProfsTer? | |
| NM_001318017.2:c.534_556dup | NP_001304946.1:p.His186ProfsTer? | |
| NM_001318018.2:c.534_556dup | NP_001304947.1:p.His186ProfsTer? | |
| NM_000039.3:c.534_556dup MANE Select | NP_000030.1:p.His186ProfsTer? |