Linked Data
dbSNP Id:
rs1209289805
gnomAD v3:
6-24491150-GTCCCCACCA-G
gnomAD v4:
6-24491150-GTCCCCACCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24491154_24491162del , CM000668.2:g.24491154_24491162del | GRCh38 |
| NC_000006.11:g.24491382_24491390del , CM000668.1:g.24491382_24491390del | GRCh37 |
| NC_000006.10:g.24599361_24599369del | NCBI36 |
| NG_008161.1:g.1186_1194del | |
| NG_029888.2:g.3464_3472del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474784.5:n.240-1662_240-1654del | ||
| ENST00000475417.1:n.234-1662_234-1654del | ||
| XM_011514509.1:c.45-1662_45-1654del | XP_011512811.1:n.45-1662_45-1654del | |
| XM_017010753.2:c.45-1662_45-1654del | XP_016866242.1:n.45-1662_45-1654del | |
| XR_002956277.1:n.267-1662_267-1654del |