Linked Data
dbSNP Id:
rs1328875742
gnomAD v2:
7-92124096-TG-T
gnomAD v3:
7-92494782-TG-T
gnomAD v4:
7-92494782-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92494783del , CM000669.2:g.92494783del | GRCh38 |
| NC_000007.13:g.92124097del , CM000669.1:g.92124097del | GRCh37 |
| NC_000007.12:g.91962033del | NCBI36 |
| NG_008341.1:g.38749del | |
| NG_008341.2:g.38749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2784-154del MANE Select | ENSP00000248633.4:n.2784-154del | |
| ENST00000248633.8:c.2784-154del | ENSP00000248633.4:n.2784-154del | |
| ENST00000428214.5:c.2613-154del | ENSP00000394413.1:n.2613-154del | |
| ENST00000438045.5:c.1818-154del | ENSP00000410438.1:n.1818-154del | |
| ENST00000484913.5:n.2823-154del | ||
| ENST00000496420.5:n.2676-154del | ||
| NM_000466.2:c.2784-154del | NP_000457.1:n.2784-154del | |
| NM_001282677.1:c.2613-154del | NP_001269606.1:n.2613-154del | |
| NM_001282678.1:c.2160-154del | NP_001269607.1:n.2160-154del | |
| XM_005250433.3:c.1035-154del | XP_005250490.1:n.1035-154del | |
| XR_242246.3:n.2880-154del | ||
| XM_017012319.2:c.1035-154del | XP_016867808.1:n.1035-154del | |
| XR_001744808.2:n.1811-154del | ||
| XR_242246.5:n.2831-154del | ||
| NM_000466.3:c.2784-154del MANE Select | NP_000457.1:n.2784-154del | |
| NM_001282677.2:c.2613-154del | NP_001269606.1:n.2613-154del | |
| NM_001282678.2:c.2160-154del | NP_001269607.1:n.2160-154del |