Linked Data
dbSNP Id:
rs1413769957
gnomAD v2:
7-143029417-CGGTG-C
gnomAD v3:
7-143332324-CGGTG-C
gnomAD v4:
7-143332324-CGGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332326_143332329del , CM000669.2:g.143332326_143332329del | GRCh38 |
| NC_000007.13:g.143029419_143029422del , CM000669.1:g.143029419_143029422del | GRCh37 |
| NC_000007.12:g.142739541_142739544del | NCBI36 |
| NG_009815.1:g.21201_21204del | |
| NG_009815.2:g.21201_21204del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1167-93_1167-90del | ENSP00000498052.2:n.1167-93_1167-90del | |
| ENST00000343257.7:c.1167-93_1167-90del MANE Select | ENSP00000339867.2:n.1167-93_1167-90del | |
| ENST00000432192.6:c.991-93_991-90del | ||
| ENST00000343257.6:c.1167-93_1167-90del | ENSP00000339867.2:n.1167-93_1167-90del | |
| NM_000083.2:c.1167-93_1167-90del | NP_000074.2:n.1167-93_1167-90del | |
| NR_046453.1:n.1257-93_1257-90del | ||
| XM_011515781.1:c.1167-93_1167-90del | XP_011514083.1:n.1167-93_1167-90del | |
| XM_011515782.1:c.-3-398_-3-395del | XP_011514084.1:n.-3-398_-3-395del | |
| XM_011515782.2:c.-3-398_-3-395del | XP_011514084.1:n.-3-398_-3-395del | |
| XM_017011739.1:c.717-93_717-90del | XP_016867228.1:n.717-93_717-90del | |
| XM_017011740.1:c.717-93_717-90del | XP_016867229.1:n.717-93_717-90del | |
| NM_000083.3:c.1167-93_1167-90del MANE Select | NP_000074.3:n.1167-93_1167-90del | |
| NR_046453.2:n.1272-93_1272-90del |