Linked Data
dbSNP Id:
rs1433716910
gnomAD v2:
7-143036290-GT-G
gnomAD v3:
7-143339197-GT-G
gnomAD v4:
7-143339197-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339198del , CM000669.2:g.143339198del | GRCh38 |
| NC_000007.13:g.143036291del , CM000669.1:g.143036291del | GRCh37 |
| NC_000007.12:g.142746413del | NCBI36 |
| NG_009815.1:g.28073del | |
| NG_009815.2:g.28073del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1402-55del | ENSP00000498052.2:n.1402-55del | |
| ENST00000343257.7:c.1402-55del MANE Select | ENSP00000339867.2:n.1402-55del | |
| ENST00000432192.6:c.1226-55del | ||
| ENST00000343257.6:c.1402-55del | ENSP00000339867.2:n.1402-55del | |
| NM_000083.2:c.1402-55del | NP_000074.2:n.1402-55del | |
| NR_046453.1:n.1342-55del | ||
| XM_011515781.1:c.1426-55del | XP_011514083.1:n.1426-55del | |
| XM_011515782.1:c.148-55del | XP_011514084.1:n.148-55del | |
| XM_011515782.2:c.148-55del | XP_011514084.1:n.148-55del | |
| XM_017011739.1:c.976-55del | XP_016867228.1:n.976-55del | |
| XM_017011740.1:c.952-55del | XP_016867229.1:n.952-55del | |
| NM_000083.3:c.1402-55del MANE Select | NP_000074.3:n.1402-55del | |
| NR_046453.2:n.1357-55del |