Linked Data
dbSNP Id:
rs1349995133
gnomAD v2:
7-92128994-AAAG-A
gnomAD v3:
7-92499680-AAAG-A
gnomAD v4:
7-92499680-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499685_92499687del , CM000669.2:g.92499685_92499687del | GRCh38 |
| NC_000007.13:g.92128999_92129001del , CM000669.1:g.92128999_92129001del | GRCh37 |
| NC_000007.12:g.91966935_91966937del | NCBI36 |
| NG_008341.1:g.33849_33851del | |
| NG_008341.2:g.33849_33851del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2718+21_2718+23del MANE Select | ENSP00000248633.4:n.2718+21_2718+23del | |
| ENST00000248633.8:c.2718+21_2718+23del | ENSP00000248633.4:n.2718+21_2718+23del | |
| ENST00000428214.5:c.2547+21_2547+23del | ENSP00000394413.1:n.2547+21_2547+23del | |
| ENST00000438045.5:c.1752+21_1752+23del | ENSP00000410438.1:n.1752+21_1752+23del | |
| ENST00000484913.5:n.2757+21_2757+23del | ||
| ENST00000496420.5:n.2610+21_2610+23del | ||
| NM_000466.2:c.2718+21_2718+23del | NP_000457.1:n.2718+21_2718+23del | |
| NM_001282677.1:c.2547+21_2547+23del | NP_001269606.1:n.2547+21_2547+23del | |
| NM_001282678.1:c.2094+21_2094+23del | NP_001269607.1:n.2094+21_2094+23del | |
| XM_005250433.3:c.969+21_969+23del | XP_005250490.1:n.969+21_969+23del | |
| XR_242246.3:n.2814+21_2814+23del | ||
| XM_017012319.2:c.969+21_969+23del | XP_016867808.1:n.969+21_969+23del | |
| XR_001744808.2:n.1745+21_1745+23del | ||
| XR_242246.5:n.2765+21_2765+23del | ||
| NM_000466.3:c.2718+21_2718+23del MANE Select | NP_000457.1:n.2718+21_2718+23del | |
| NM_001282677.2:c.2547+21_2547+23del | NP_001269606.1:n.2547+21_2547+23del | |
| NM_001282678.2:c.2094+21_2094+23del | NP_001269607.1:n.2094+21_2094+23del |