Linked Data
dbSNP Id:
rs1562867448
gnomAD v2:
7-92147582-GACGAAA-G
gnomAD v3:
7-92518268-GACGAAA-G
gnomAD v4:
7-92518268-GACGAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518270_92518275del , CM000669.2:g.92518270_92518275del | GRCh38 |
| NC_000007.13:g.92147584_92147589del , CM000669.1:g.92147584_92147589del | GRCh37 |
| NC_000007.12:g.91985520_91985525del | NCBI36 |
| NG_008341.1:g.15258_15263del | |
| NG_008341.2:g.15258_15263del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.358-19_358-14del MANE Select | ENSP00000248633.4:n.358-19_358-14del | |
| ENST00000248633.8:c.358-19_358-14del | ENSP00000248633.4:n.358-19_358-14del | |
| ENST00000428214.5:c.358-19_358-14del | ENSP00000394413.1:n.358-19_358-14del | |
| ENST00000438045.5:c.273+3828_273+3833del | ENSP00000410438.1:n.273+3828_273+3833del | |
| ENST00000484913.5:n.397-19_397-14del | ||
| NM_000466.2:c.358-19_358-14del | NP_000457.1:n.358-19_358-14del | |
| NM_001282677.1:c.358-19_358-14del | NP_001269606.1:n.358-19_358-14del | |
| NM_001282678.1:c.-267-19_-267-14del | NP_001269607.1:n.-267-19_-267-14del | |
| XR_242246.3:n.454-19_454-14del | ||
| XR_242246.5:n.405-19_405-14del | ||
| NM_000466.3:c.358-19_358-14del MANE Select | NP_000457.1:n.358-19_358-14del | |
| NM_001282677.2:c.358-19_358-14del | NP_001269606.1:n.358-19_358-14del | |
| NM_001282678.2:c.-267-19_-267-14del | NP_001269607.1:n.-267-19_-267-14del |