Linked Data
ClinVar Variation Id:
188910
ClinVar RCV Id:
RCV000169270
RCV001004520
RCV001194278
RCV001201363
RCV001781524
RCV003162722
RCV003474903
dbSNP Id:
rs749067142
ExAC:
7:92147045 CTT / C
gnomAD v2:
7-92147045-CTT-C
gnomAD v3:
7-92517731-CTT-C
gnomAD v4:
7-92517731-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517732_92517733del , CM000669.2:g.92517732_92517733del | GRCh38 |
| NC_000007.13:g.92147046_92147047del , CM000669.1:g.92147046_92147047del | GRCh37 |
| NC_000007.12:g.91984982_91984983del | NCBI36 |
| NG_008341.1:g.15799_15800del | |
| NG_008341.2:g.15799_15800del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.782_783del MANE Select | ENSP00000248633.4:p.Gln261ArgfsTer8 | |
| ENST00000248633.8:c.782_783del | ENSP00000248633.4:p.Gln261ArgfsTer8 | |
| ENST00000428214.5:c.782_783del | ENSP00000394413.1:p.Gln261ArgfsTer8 | |
| ENST00000438045.5:c.274-3766_274-3765del | ENSP00000410438.1:n.274-3766_274-3765del | |
| ENST00000484913.5:n.821_822del | ||
| NM_000466.2:c.782_783del | NP_000457.1:p.Gln261ArgfsTer8 | |
| NM_001282677.1:c.782_783del | NP_001269606.1:p.Gln261ArgfsTer8 | |
| NM_001282678.1:c.158_159del | NP_001269607.1:p.Gln53ArgfsTer8 | |
| XR_242246.3:n.878_879del | ||
| XR_242246.5:n.829_830del | ||
| NM_000466.3:c.782_783del MANE Select | NP_000457.1:p.Gln261ArgfsTer8 | |
| NM_001282677.2:c.782_783del | NP_001269606.1:p.Gln261ArgfsTer8 | |
| NM_001282678.2:c.158_159del | NP_001269607.1:p.Gln53ArgfsTer8 |