Linked Data
dbSNP Id:
rs983737357
gnomAD v2:
6-24290746-ATAT-A
gnomAD v3:
6-24290518-ATAT-A
gnomAD v4:
6-24290518-ATAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290522_24290524del , CM000668.2:g.24290522_24290524del | GRCh38 |
| NC_000006.11:g.24290750_24290752del , CM000668.1:g.24290750_24290752del | GRCh37 |
| NC_000006.10:g.24398729_24398731del | NCBI36 |
| NG_012829.1:g.72532_72534del | |
| NG_012829.2:g.97772_97774del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+411_704+413del MANE Select | ENSP00000367715.3:n.704+411_704+413del | |
| ENST00000378454.7:c.704+411_704+413del | ENSP00000367715.3:n.704+411_704+413del | |
| NM_001195610.1:c.704+411_704+413del | NP_001182539.1:n.704+411_704+413del | |
| NM_016356.4:c.704+411_704+413del | NP_057440.2:n.704+411_704+413del | |
| NM_016356.5:c.704+411_704+413del MANE Select | NP_057440.2:n.704+411_704+413del | |
| NM_001195610.2:c.704+411_704+413del | NP_001182539.1:n.704+411_704+413del |