Linked Data
dbSNP Id:
rs538794723
gnomAD v2:
6-33402595-A-AG
gnomAD v3:
6-33434818-A-AG
gnomAD v4:
6-33434818-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33434824dup , CM000668.2:g.33434824dup | GRCh38 |
| NC_000006.11:g.33402601dup , CM000668.1:g.33402601dup | GRCh37 |
| NC_000006.10:g.33510579dup | NCBI36 |
| NG_016137.1:g.19755dup | |
| NG_016137.2:g.19755dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.252-328dup | ENSP00000507403.1:n.252-328dup | |
| ENST00000418600.7:c.510-328dup | ENSP00000403636.3:n.510-328dup | |
| ENST00000449372.7:c.510-328dup | ENSP00000416519.4:n.510-328dup | |
| ENST00000629380.3:c.510-328dup | ENSP00000486463.1:n.510-328dup | |
| ENST00000638142.2:c.510-328dup | ENSP00000490803.1:n.510-328dup | |
| ENST00000644458.1:c.510-328dup | ENSP00000495541.1:n.510-328dup | |
| ENST00000645250.1:c.333-328dup | ENSP00000494861.1:n.333-328dup | |
| ENST00000646630.1:c.510-328dup MANE Select | ENSP00000496007.1:n.510-328dup | |
| ENST00000293748.9:c.465-328dup | ENSP00000293748.6:n.465-328dup | |
| ENST00000418600.6:c.510-328dup | ENSP00000403636.3:n.510-328dup | |
| ENST00000428982.4:c.333-328dup | ENSP00000412475.2:n.333-328dup | |
| ENST00000449372.6:c.510-328dup | ENSP00000416519.3:n.510-328dup | |
| ENST00000479510.2:n.705-328dup | ||
| ENST00000628646.2:c.510-328dup | ENSP00000486431.1:n.510-328dup | |
| ENST00000629380.2:c.510-328dup | ENSP00000486463.1:n.510-328dup | |
| NM_006772.2:c.510-328dup | NP_006763.2:n.510-328dup | |
| NM_001130066.1:c.510-328dup | NP_001123538.1:n.510-328dup | |
| NM_001130066.2:c.510-328dup | NP_001123538.1:n.510-328dup | |
| NM_006772.3:c.510-328dup MANE Select | NP_006763.2:n.510-328dup |