Linked Data
ClinVar Variation Id:
835838
ClinVar RCV Id:
RCV001036822
dbSNP Id:
rs1372103295
gnomAD v4:
2-73572545-CAAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572548_73572551del , CM000664.2:g.73572548_73572551del | GRCh38 |
| NC_000002.11:g.73799675_73799678del , CM000664.1:g.73799675_73799678del | GRCh37 |
| NC_000002.10:g.73653183_73653186del | NCBI36 |
| NG_011690.1:g.191796_191799del , LRG_741:g.191796_191799del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10290_10293del | ENSP00000507671.1:p.Glu3431Ter | |
| ENST00000682801.1:c.10290_10293del | ENSP00000507862.1:p.Glu3431Ter | |
| ENST00000682859.1:c.10290_10293del | ENSP00000508222.1:p.Glu3431Ter | |
| ENST00000683791.1:c.3376_3379del | ||
| ENST00000684460.1:c.7571_7574del | ||
| ENST00000684548.1:c.10290_10293del | ENSP00000507421.1:p.Glu3431Ter | |
| ENST00000684590.1:c.4737_4740del | ENSP00000507376.1:p.Glu1580Ter | |
| ENST00000684656.1:c.7616_7619del | ||
| ENST00000613296.6:c.10671_10674del MANE Select | ENSP00000482968.1:p.Glu3558Ter | |
| ENST00000651057.1:c.825_828del | ENSP00000498504.1:p.Glu276Ter | |
| ENST00000651434.1:c.2027_2030del | ||
| ENST00000651750.1:c.59_62del | ||
| ENST00000652487.1:c.1768_1771del | ||
| ENST00000423048.5:c.4162_4165del | ENSP00000399833.1:n.4162_4165del | |
| ENST00000484298.5:c.10545_10548del | ENSP00000478155.1:p.Glu3516Ter | |
| ENST00000613296.4:c.10671_10674del | ENSP00000482968.1:p.Glu3558Ter | |
| ENST00000614410.4:c.10671_10674del | ENSP00000479094.1:p.Glu3558Ter | |
| ENST00000620466.4:n.4474_4477del | ||
| NM_015120.4:c.10674_10677del , LRG_741t1:c.10674_10677del | NP_055935.4:p.Glu3559Ter | |
| NM_001378454.1:c.10671_10674del MANE Select | NP_001365383.1:p.Glu3558Ter |