Linked Data
dbSNP Id:
rs1190845213
gnomAD v2:
7-92147589-A-ATT
gnomAD v3:
7-92518275-A-ATT
gnomAD v4:
7-92518275-A-ATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518275_92518276insTT , CM000669.2:g.92518275_92518276insTT | GRCh38 |
| NC_000007.13:g.92147589_92147590insTT , CM000669.1:g.92147589_92147590insTT | GRCh37 |
| NC_000007.12:g.91985525_91985526insTT | NCBI36 |
| NG_008341.1:g.15256_15257insAA | |
| NG_008341.2:g.15256_15257insAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.358-21_358-20insAA MANE Select | ENSP00000248633.4:n.358-21_358-20insAA | |
| ENST00000248633.8:c.358-21_358-20insAA | ENSP00000248633.4:n.358-21_358-20insAA | |
| ENST00000428214.5:c.358-21_358-20insAA | ENSP00000394413.1:n.358-21_358-20insAA | |
| ENST00000438045.5:c.273+3826_273+3827insAA | ENSP00000410438.1:n.273+3826_273+3827insA... | |
| ENST00000484913.5:n.397-21_397-20insAA | ||
| NM_000466.2:c.358-21_358-20insAA | NP_000457.1:n.358-21_358-20insAA | |
| NM_001282677.1:c.358-21_358-20insAA | NP_001269606.1:n.358-21_358-20insAA | |
| NM_001282678.1:c.-267-21_-267-20insAA | NP_001269607.1:n.-267-21_-267-20insAA | |
| XR_242246.3:n.454-21_454-20insAA | ||
| XR_242246.5:n.405-21_405-20insAA | ||
| NM_000466.3:c.358-21_358-20insAA MANE Select | NP_000457.1:n.358-21_358-20insAA | |
| NM_001282677.2:c.358-21_358-20insAA | NP_001269606.1:n.358-21_358-20insAA | |
| NM_001282678.2:c.-267-21_-267-20insAA | NP_001269607.1:n.-267-21_-267-20insAA |