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:
191325
ClinVar RCV Id:
RCV003988831
dbSNP Id:
rs786205645
PubMed:
PMID:27894351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169508828_169508829del , CM000666.2:g.169508828_169508829del | GRCh38 |
| NC_000004.11:g.170429979_170429980del , CM000666.1:g.170429979_170429980del | GRCh37 |
| NC_000004.10:g.170666554_170666555del | NCBI36 |
| NG_027982.1:g.108800_108801del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685111.1:c.1582-497_1582-496del | ENSP00000508844.1:n.1582-497_1582-496del | |
| ENST00000685677.1:n.988_989del | ||
| ENST00000686697.1:c.1540-497_1540-496del | ENSP00000508689.1:n.1540-497_1540-496del | |
| ENST00000687054.1:n.2244-497_2244-496del | ||
| ENST00000687219.1:c.*1253-497_*1253-496del | ENSP00000509736.1:n.*1253-497_*1253-496de... | |
| ENST00000687528.1:c.1558_1559del | ENSP00000510228.1:p.Met520ValfsTer? | |
| ENST00000687643.1:c.1693-497_1693-496del | ENSP00000509309.1:n.1693-497_1693-496del | |
| ENST00000688934.1:c.-132-497_-132-496del | ENSP00000510760.1:n.-132-497_-132-496del | |
| ENST00000689190.1:n.1139_1140del | ||
| ENST00000692450.1:c.*1355_*1356del | ENSP00000510283.1:n.*1355_*1356del | |
| ENST00000693085.1:c.*1493-497_*1493-496del | ENSP00000508746.1:n.*1493-497_*1493-496de... | |
| ENST00000693604.1:c.*684-497_*684-496del | ENSP00000509917.1:n.*684-497_*684-496del | |
| ENST00000507142.6:c.1690_1691del MANE Select | ENSP00000424757.2:p.Met564ValfsTer? | |
| ENST00000439128.6:c.1666-497_1666-496del | ENSP00000408020.2:n.1666-497_1666-496del | |
| ENST00000507142.5:c.1690_1691del | ENSP00000424757.1:p.Met564ValfsTer? | |
| ENST00000510533.5:c.1534-497_1534-496del | ENSP00000427653.1:n.1534-497_1534-496del | |
| ENST00000511633.5:c.1558_1559del | ENSP00000423332.1:p.Met520ValfsTer? | |
| ENST00000512193.5:c.1459-497_1459-496del | ENSP00000424938.1:n.1459-497_1459-496del | |
| NM_001199397.1:c.1690_1691del | NP_001186326.1:p.Met564ValfsTer? | |
| NM_001199398.1:c.1558_1559del | NP_001186327.1:p.Met520ValfsTer? | |
| NM_001199399.1:c.1459-497_1459-496del | NP_001186328.1:n.1459-497_1459-496del | |
| NM_001199400.1:c.1534-497_1534-496del | NP_001186329.1:n.1534-497_1534-496del | |
| NM_012224.2:c.1666-497_1666-496del | NP_036356.1:n.1666-497_1666-496del | |
| XM_006714228.1:c.1690_1691del | XP_006714291.1:p.Met564ValfsTer? | |
| XM_011532003.1:c.1666-497_1666-496del | XP_011530305.1:n.1666-497_1666-496del | |
| XM_011532004.1:c.1534-497_1534-496del | XP_011530306.1:n.1534-497_1534-496del | |
| XM_011532005.1:c.1690_1691del | XP_011530307.1:p.Met564ValfsTer? | |
| XM_011532005.2:c.1690_1691del | XP_011530307.1:p.Met564ValfsTer? | |
| XM_017008249.1:c.1069_1070del | XP_016863738.1:p.Met357ValfsTer? | |
| XM_017008251.1:c.1045-497_1045-496del | XP_016863740.1:n.1045-497_1045-496del | |
| XM_017008252.2:c.1045-497_1045-496del | XP_016863741.1:n.1045-497_1045-496del | |
| XM_017008253.1:c.538_539del | XP_016863742.1:p.Met180ValfsTer? | |
| XM_017008254.1:c.334_335del | XP_016863743.1:p.Met112ValfsTer? | |
| XM_024454065.1:c.1069_1070del | XP_024309833.1:p.Met357ValfsTer? | |
| XR_001741233.1:n.2270_2271del | ||
| XR_001741234.2:n.2083_2084del | ||
| NM_001199397.3:c.1690_1691del MANE Select | NP_001186326.1:p.Met564ValfsTer? | |
| NM_001199398.2:c.1558_1559del | NP_001186327.1:p.Met520ValfsTer? | |
| NM_001199399.2:c.1459-497_1459-496del | NP_001186328.1:n.1459-497_1459-496del | |
| NM_001199400.2:c.1534-497_1534-496del | NP_001186329.1:n.1534-497_1534-496del | |
| NM_001374418.1:c.1690_1691del | NP_001361347.1:p.Met564ValfsTer? | |
| NM_001374419.1:c.1666-497_1666-496del | NP_001361348.1:n.1666-497_1666-496del | |
| NM_001374420.1:c.1615-497_1615-496del | NP_001361349.1:n.1615-497_1615-496del | |
| NM_001374421.1:c.1540-497_1540-496del | NP_001361350.1:n.1540-497_1540-496del | |
| NM_012224.3:c.1666-497_1666-496del | NP_036356.1:n.1666-497_1666-496del | |
| NR_164630.1:n.2212-497_2212-496del | ||
| NM_001199398.3:c.1558_1559del | NP_001186327.1:p.Met520ValfsTer? | |
| NM_001199399.3:c.1459-497_1459-496del | NP_001186328.1:n.1459-497_1459-496del | |
| NM_001199400.3:c.1534-497_1534-496del | NP_001186329.1:n.1534-497_1534-496del | |
| NM_012224.4:c.1666-497_1666-496del | NP_036356.1:n.1666-497_1666-496del |