Linked Data
dbSNP Id:
rs1213815580
gnomAD v2:
7-147575014-TAC-T
gnomAD v3:
7-147877922-TAC-T
gnomAD v4:
7-147877922-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147877923_147877924del , CM000669.2:g.147877923_147877924del | GRCh38 |
| NC_000007.13:g.147575015_147575016del , CM000669.1:g.147575015_147575016del | GRCh37 |
| NC_000007.12:g.147205948_147205949del | NCBI36 |
| NG_007092.2:g.1766563_1766564del | |
| NG_007092.3:g.1766923_1766924del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2099-25642_2099-25641del MANE Select | ENSP00000354778.3:n.2099-25642_2099-25641del | |
| ENST00000636870.1:n.1961-25642_1961-25641del | ||
| ENST00000637825.1:n.1582-25642_1582-25641del | ||
| ENST00000361727.7:c.2099-25642_2099-25641del | ENSP00000354778.3:n.2099-25642_2099-25641del | |
| ENST00000455301.2:n.34-25642_34-25641del | ||
| ENST00000627772.2:n.272-25642_272-25641del | ||
| NM_014141.5:c.2099-25642_2099-25641del | NP_054860.1:n.2099-25642_2099-25641del | |
| XM_006715919.1:c.587-25642_587-25641del | XP_006715982.1:n.587-25642_587-25641del | |
| NM_014141.6:c.2099-25642_2099-25641del MANE Select | NP_054860.1:n.2099-25642_2099-25641del |