UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
155930
ClinVar RCV Id:
RCV000144052
dbSNP Id:
rs869320745
gnomAD v2:
19-10468678-CCCTCCCTGG-C
gnomAD v4:
19-10358002-CCCTCCCTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10358003_10358011del , CM000681.2:g.10358003_10358011del | GRCh38 |
| NC_000019.9:g.10468679_10468687del , CM000681.1:g.10468679_10468687del | GRCh37 |
| NC_000019.8:g.10329679_10329687del | NCBI36 |
| NG_007872.1:g.27562_27570del , LRG_121:g.27562_27570del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524470.2:c.*652_*660del | ENSP00000514307.1:n.*652_*660del | |
| ENST00000525976.6:c.2303_2311del | ENSP00000434831.2:p.Ser768Ter | |
| ENST00000527481.3:c.2303_2311del | ENSP00000466340.2:p.Ser768Ter | |
| ENST00000529370.6:n.2634_2642del | ||
| ENST00000529739.2:n.2717_2725del | ||
| ENST00000530829.2:c.*1854_*1862del | ENSP00000436826.2:n.*1854_*1862del | |
| ENST00000531836.6:c.2303_2311del | ENSP00000436175.2:p.Ser768Ter | |
| ENST00000533334.2:c.*345_*353del | ENSP00000432320.2:n.*345_*353del | |
| ENST00000534228.2:n.2717_2725del | ||
| ENST00000699354.1:n.405_413del | ||
| ENST00000699355.1:c.*363_*371del | ENSP00000514328.1:n.*363_*371del | |
| ENST00000699356.1:n.2717_2725del | ||
| ENST00000699357.1:n.2717_2725del | ||
| ENST00000699358.1:c.2303_2311del | ENSP00000514329.1:p.Ser768Ter | |
| ENST00000699360.1:c.2303_2311del | ENSP00000514331.1:p.Ser768Ter | |
| ENST00000525621.6:c.2303_2311del MANE Select | ENSP00000431885.1:p.Ser768Ter | |
| ENST00000264818.10:c.2303_2311del | ENSP00000264818.6:p.Ser768Ter | |
| ENST00000524462.5:c.1748_1756del | ENSP00000433203.1:p.Ser583Ter | |
| ENST00000525621.5:c.2303_2311del | ENSP00000431885.1:p.Ser768Ter | |
| ENST00000529370.5:c.2303_2311del | ENSP00000432728.1:p.Ser768Ter | |
| ENST00000533334.1:c.592_600del | ||
| NM_003331.4:c.2303_2311del , LRG_121t1:c.2303_2311del | NP_003322.3:p.Ser768Ter | |
| XM_011528245.1:c.2303_2311del | XP_011526547.1:p.Ser768Ter | |
| XM_011528246.1:c.2006_2014del | XP_011526548.1:p.Ser669Ter | |
| XM_011528247.1:c.2006_2014del | XP_011526549.1:p.Ser669Ter | |
| XM_011528248.1:c.2303_2311del | XP_011526550.1:p.Ser768Ter | |
| XM_011528249.1:c.977_985del | XP_011526551.1:p.Ser326Ter | |
| XM_011528251.1:c.560_568del | XP_011526553.1:p.Ser187Ter | |
| XM_011528246.3:c.2006_2014del | XP_011526548.1:p.Ser669Ter | |
| XM_011528249.2:c.977_985del | XP_011526551.1:p.Ser326Ter | |
| XR_001753750.1:n.2460_2468del | ||
| XR_001753751.1:n.2460_2468del | ||
| XR_001753752.1:n.2572_2580del | ||
| XR_002958353.1:n.2341_2349del | ||
| NM_003331.5:c.2303_2311del MANE Select | NP_003322.3:p.Ser768Ter | |
| NM_001385197.1:c.2303_2311del | NP_001372126.1:p.Ser768Ter | |
| NM_001385198.1:c.2303_2311del | NP_001372127.1:p.Ser768Ter | |
| NM_001385199.1:c.2117_2125del | NP_001372128.1:p.Ser706Ter | |
| NM_001385200.1:c.2303_2311del | NP_001372129.1:p.Ser768Ter | |
| NM_001385201.1:c.2105_2113del | NP_001372130.1:p.Ser702Ter | |
| NM_001385202.1:c.2219_2227del | NP_001372131.1:p.Ser740Ter | |
| NM_001385203.1:c.2303_2311del | NP_001372132.1:p.Ser768Ter | |
| NM_001385204.1:c.2303_2311del | NP_001372133.1:p.Ser768Ter | |
| NM_001385205.1:c.2213_2221del | NP_001372134.1:p.Ser738Ter | |
| NM_001385206.1:c.2177_2185del | NP_001372135.1:p.Ser726Ter | |
| NM_001385207.1:c.2285_2293del | NP_001372136.1:p.Ser762Ter |