Linked Data
dbSNP Id:
rs939101040
gnomAD v2:
8-38003386-GT-G
gnomAD v3:
8-38145868-GT-G
gnomAD v4:
8-38145868-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145871del , CM000670.2:g.38145871del | GRCh38 |
| NC_000008.10:g.38003389del , CM000670.1:g.38003389del | GRCh37 |
| NC_000008.9:g.38122546del | NCBI36 |
| NG_011827.1:g.10214del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.650+94del MANE Select | ENSP00000276449.3:n.650+94del | |
| ENST00000276449.8:c.650+94del | ENSP00000276449.3:n.650+94del | |
| ENST00000520114.1:n.1231del | ||
| ENST00000522050.1:c.586+94del | ||
| NM_000349.2:c.650+94del | NP_000340.2:n.650+94del | |
| XM_006716392.1:c.650+94del | XP_006716455.1:n.650+94del | |
| NM_000349.3:c.650+94del MANE Select | NP_000340.2:n.650+94del |