Linked Data
dbSNP Id:
rs11385942
gnomAD v2:
3-45876459-G-GA
gnomAD v3:
3-45834967-G-GA
gnomAD v4:
3-45834967-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45834969dup , CM000665.2:g.45834969dup | GRCh38 |
| NC_000003.11:g.45876461dup , CM000665.1:g.45876461dup | GRCh37 |
| NC_000003.10:g.45851465dup | NCBI36 |
| NG_033917.1:g.85757dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490463.6:c.272+622dup | ENSP00000506299.2:n.272+622dup | |
| ENST00000699186.1:n.312+566dup | ||
| ENST00000699187.1:c.323+622dup | ENSP00000514188.1:n.323+622dup | |
| ENST00000684620.1:c.272+622dup | ENSP00000506925.1:n.272+622dup | |
| ENST00000296135.11:c.323+622dup MANE Select | ENSP00000296135.6:n.323+622dup | |
| ENST00000418700.6:c.*304+622dup | ENSP00000416427.2:n.*304+622dup | |
| ENST00000296135.10:c.323+622dup | ENSP00000296135.6:n.323+622dup | |
| ENST00000411866.5:c.169+622dup | ENSP00000397589.1:n.169+622dup | |
| ENST00000418700.5:c.*338+622dup | ENSP00000416427.1:n.*338+622dup | |
| ENST00000440576.2:c.195+622dup | ||
| ENST00000448111.5:c.*213+622dup | ENSP00000400177.1:n.*213+622dup | |
| ENST00000469874.5:n.208+622dup | ||
| ENST00000480156.5:n.468+622dup | ||
| ENST00000490463.5:n.486+622dup | ||
| ENST00000495864.5:n.1099dup | ||
| ENST00000536047.5:c.272+622dup | ENSP00000439522.1:n.272+622dup | |
| ENST00000539217.5:c.311+622dup | ENSP00000441784.1:n.311+622dup | |
| NM_001276378.1:c.272+622dup | NP_001263307.1:n.272+622dup | |
| NM_001276379.1:c.311+622dup | NP_001263308.1:n.311+622dup | |
| NM_020347.3:c.323+622dup | NP_065080.1:n.323+622dup | |
| NR_075080.1:n.365+622dup | ||
| XM_006713207.2:c.323+622dup | XP_006713270.2:n.323+622dup | |
| XM_011533838.1:c.272+622dup | XP_011532140.1:n.272+622dup | |
| XM_011533839.1:c.353+622dup | XP_011532141.1:n.353+622dup | |
| XM_006713207.3:c.323+622dup | XP_006713270.2:n.323+622dup | |
| XM_011533838.2:c.272+622dup | XP_011532140.1:n.272+622dup | |
| XM_017006645.2:c.350+622dup | XP_016862134.1:n.350+622dup | |
| NM_020347.4:c.323+622dup MANE Select | NP_065080.1:n.323+622dup | |
| NR_075080.2:n.326+622dup | ||
| NM_001276378.2:c.272+622dup | NP_001263307.1:n.272+622dup | |
| NM_001276379.2:c.311+622dup | NP_001263308.1:n.311+622dup | |
| NM_001386451.1:c.272+622dup | NP_001373380.1:n.272+622dup | |
| NM_001386452.1:c.323+622dup | NP_001373381.1:n.323+622dup |