Linked Data
dbSNP Id:
rs1771009440
gnomAD v3:
6-29942810-G-GAGCCCCGCTTCATCGCCGTGGGC
gnomAD v4:
6-29942810-G-GAGCCCCGCTTCATCGCCGTGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942811_29942833dup , CM000668.2:g.29942811_29942833dup | GRCh38 |
| NC_000006.11:g.29910588_29910610dup , CM000668.1:g.29910588_29910610dup | GRCh37 |
| NC_000006.10:g.30018567_30018589dup | NCBI36 |
| NG_029217.2:g.5346_5368dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000638375.2:c.128_150dup | ENSP00000492789.2:p.Tyr51SerfsTer34 | |
| ENST00000706892.1:n.404_426dup | ||
| ENST00000706893.1:c.128_150dup | ENSP00000516609.1:p.Tyr51SerfsTer34 | |
| ENST00000706894.1:c.128_150dup | ENSP00000516610.1:p.Tyr51SerfsTer34 | |
| ENST00000706895.1:n.404_426dup | ||
| ENST00000706896.1:n.404_426dup | ||
| ENST00000706897.1:n.404_426dup | ||
| ENST00000706898.1:c.128_150dup | ENSP00000516611.1:p.Tyr51SerfsTer34 | |
| ENST00000706899.1:n.404_426dup | ||
| ENST00000706900.1:c.44_66dup | ENSP00000516617.1:p.Tyr23SerfsTer34 | |
| ENST00000706901.1:c.128_150dup | ENSP00000516612.1:p.Tyr51SerfsTer34 | |
| ENST00000706902.1:c.128_150dup | ENSP00000516613.1:p.Tyr51SerfsTer34 | |
| ENST00000706903.1:c.128_150dup | ENSP00000516614.1:p.Tyr51SerfsTer34 | |
| ENST00000706904.1:c.128_150dup | ENSP00000516615.1:p.Tyr51SerfsTer34 | |
| ENST00000706905.1:c.128_150dup | ENSP00000516616.1:p.Tyr51SerfsTer34 | |
| ENST00000376809.10:c.128_150dup MANE Select | ENSP00000366005.5:p.Tyr51SerfsTer34 | |
| ENST00000638375.1:c.128_150dup | ENSP00000492789.1:p.Tyr51SerfsTer34 | |
| ENST00000376802.2:c.128_150dup | ENSP00000365998.2:p.Tyr51SerfsTer34 | |
| ENST00000376806.9:c.128_150dup | ENSP00000366002.5:p.Tyr51SerfsTer34 | |
| ENST00000376809.9:c.128_150dup | ENSP00000366005.5:p.Tyr51SerfsTer34 | |
| ENST00000396634.5:c.128_150dup | ENSP00000379873.1:p.Tyr51SerfsTer34 | |
| ENST00000429656.1:n.235_257dup | ||
| ENST00000461903.1:n.128_150dup | ||
| ENST00000479320.5:n.128_150dup | ||
| ENST00000495183.5:n.130_152dup | ||
| ENST00000496081.5:n.134_156dup | ||
| NM_002116.7:c.128_150dup | NP_002107.3:p.Tyr51SerfsTer34 | |
| NM_002116.8:c.128_150dup MANE Select | NP_002107.3:p.Tyr51SerfsTer34 |