Linked Data
dbSNP Id:
rs772906174
ExAC:
7:92148303 CT / C
gnomAD v2:
7-92148303-CT-C
gnomAD v4:
7-92518989-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518992del , CM000669.2:g.92518992del | GRCh38 |
| NC_000007.13:g.92148306del , CM000669.1:g.92148306del | GRCh37 |
| NC_000007.12:g.91986242del | NCBI36 |
| NG_008341.1:g.14542del | |
| NG_008341.2:g.14542del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.357+5del MANE Select | ENSP00000248633.4:n.357+5del | |
| ENST00000248633.8:c.357+5del | ENSP00000248633.4:n.357+5del | |
| ENST00000428214.5:c.357+5del | ENSP00000394413.1:n.357+5del | |
| ENST00000438045.5:c.273+3112del | ENSP00000410438.1:n.273+3112del | |
| ENST00000484913.5:n.366del | ||
| NM_000466.2:c.357+5del | NP_000457.1:n.357+5del | |
| NM_001282677.1:c.357+5del | NP_001269606.1:n.357+5del | |
| NM_001282678.1:c.-298del | NP_001269607.1:n.-298del | |
| XR_242246.3:n.453+5del | ||
| XR_242246.5:n.404+5del | ||
| NM_000466.3:c.357+5del MANE Select | NP_000457.1:n.357+5del | |
| NM_001282677.2:c.357+5del | NP_001269606.1:n.357+5del | |
| NM_001282678.2:c.-298del | NP_001269607.1:n.-298del |