Linked Data
dbSNP Id:
rs748469448
ExAC:
4:100239277 A / AG
gnomAD v2:
4-100239277-A-AG
gnomAD v3:
4-99318120-A-AG
gnomAD v4:
4-99318120-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318126dup , CM000666.2:g.99318126dup | GRCh38 |
| NC_000004.11:g.100239283dup , CM000666.1:g.100239283dup | GRCh37 |
| NC_000004.10:g.100458306dup | NCBI36 |
| NG_011435.1:g.8295dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.184dup MANE Select | ENSP00000306606.8:p.Leu62ProfsTer8 | |
| ENST00000639454.1:c.184dup | ENSP00000491622.1:p.Leu62ProfsTer8 | |
| ENST00000305046.12:c.184dup | ENSP00000306606.8:p.Leu62ProfsTer8 | |
| ENST00000504498.1:n.238dup | ||
| ENST00000506651.5:c.64dup | ENSP00000425998.2:p.Leu22ProfsTer8 | |
| ENST00000515694.4:n.2279dup | ||
| ENST00000625860.2:c.64dup | ENSP00000486614.1:p.Leu22ProfsTer8 | |
| ENST00000632775.1:n.747dup | ||
| NM_000668.5:c.184dup | NP_000659.2:p.Leu62ProfsTer8 | |
| NM_001286650.1:c.64dup | NP_001273579.1:p.Leu22ProfsTer8 | |
| NM_000668.6:c.184dup MANE Select | NP_000659.2:p.Leu62ProfsTer8 | |
| NM_001286650.2:c.64dup | NP_001273579.1:p.Leu22ProfsTer8 |