Linked Data
ClinVar Variation Id:
1351907
ClinVar RCV Id:
RCV002047199
dbSNP Id:
rs772364058
ExAC:
7:92129001 ATAAG / A
gnomAD v2:
7-92129001-ATAAG-A
gnomAD v3:
7-92499687-ATAAG-A
gnomAD v4:
7-92499687-ATAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499690_92499693del , CM000669.2:g.92499690_92499693del | GRCh38 |
| NC_000007.13:g.92129004_92129007del , CM000669.1:g.92129004_92129007del | GRCh37 |
| NC_000007.12:g.91966940_91966943del | NCBI36 |
| NG_008341.1:g.33841_33844del | |
| NG_008341.2:g.33841_33844del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2718+13_2718+16del MANE Select | ENSP00000248633.4:n.2718+13_2718+16del | |
| ENST00000248633.8:c.2718+13_2718+16del | ENSP00000248633.4:n.2718+13_2718+16del | |
| ENST00000428214.5:c.2547+13_2547+16del | ENSP00000394413.1:n.2547+13_2547+16del | |
| ENST00000438045.5:c.1752+13_1752+16del | ENSP00000410438.1:n.1752+13_1752+16del | |
| ENST00000484913.5:n.2757+13_2757+16del | ||
| ENST00000496420.5:n.2610+13_2610+16del | ||
| NM_000466.2:c.2718+13_2718+16del | NP_000457.1:n.2718+13_2718+16del | |
| NM_001282677.1:c.2547+13_2547+16del | NP_001269606.1:n.2547+13_2547+16del | |
| NM_001282678.1:c.2094+13_2094+16del | NP_001269607.1:n.2094+13_2094+16del | |
| XM_005250433.3:c.969+13_969+16del | XP_005250490.1:n.969+13_969+16del | |
| XR_242246.3:n.2814+13_2814+16del | ||
| XM_017012319.2:c.969+13_969+16del | XP_016867808.1:n.969+13_969+16del | |
| XR_001744808.2:n.1745+13_1745+16del | ||
| XR_242246.5:n.2765+13_2765+16del | ||
| NM_000466.3:c.2718+13_2718+16del MANE Select | NP_000457.1:n.2718+13_2718+16del | |
| NM_001282677.2:c.2547+13_2547+16del | NP_001269606.1:n.2547+13_2547+16del | |
| NM_001282678.2:c.2094+13_2094+16del | NP_001269607.1:n.2094+13_2094+16del |