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
dbSNP Id:
rs774279014
ExAC:
7:6012843 GA / G
gnomAD v2:
7-6012843-GA-G
gnomAD v3:
7-5973212-GA-G
gnomAD v4:
7-5973212-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973220del , CM000669.2:g.5973220del | GRCh38 |
| NC_000007.13:g.6012851del , CM000669.1:g.6012851del | GRCh37 |
| NC_000007.12:g.5979377del | NCBI36 |
| NG_008466.1:g.40894del , LRG_161:g.40894del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*2171del | ENSP00000514615.2:n.*2171del | |
| ENST00000699930.2:c.*186del | ENSP00000514695.2:n.*186del | |
| ENST00000699752.1:c.*186del | ENSP00000514561.1:n.*186del | |
| ENST00000699753.1:c.*2196del | ENSP00000514562.1:n.*2196del | |
| ENST00000699754.1:c.*186del | ENSP00000514563.1:n.*186del | |
| ENST00000699755.1:c.*2174del | ENSP00000514564.1:n.*2174del | |
| ENST00000699756.1:c.*2362del | ENSP00000514565.1:n.*2362del | |
| ENST00000699757.1:c.*2032del | ENSP00000514566.1:n.*2032del | |
| ENST00000699758.1:c.*2032del | ENSP00000514567.1:n.*2032del | |
| ENST00000699759.1:n.3629del | ||
| ENST00000699760.1:c.*186del | ENSP00000514568.1:n.*186del | |
| ENST00000699761.1:c.*186del | ENSP00000514569.1:n.*186del | |
| ENST00000699762.1:c.*186del | ENSP00000514570.1:n.*186del | |
| ENST00000699763.1:c.*1865del | ENSP00000514571.1:n.*1865del | |
| ENST00000699764.1:c.*1093del | ENSP00000514572.1:n.*1093del | |
| ENST00000699765.1:c.*1770del | ENSP00000514573.1:n.*1770del | |
| ENST00000699766.1:c.*186del | ENSP00000514574.1:n.*186del | |
| ENST00000699767.1:c.*416del | ENSP00000514575.1:n.*416del | |
| ENST00000699768.1:c.*186del | ENSP00000514576.1:n.*186del | |
| ENST00000699811.1:c.*186del | ENSP00000514614.1:n.*186del | |
| ENST00000699813.1:n.2888del | ||
| ENST00000699814.1:c.2398del | ||
| ENST00000699815.1:c.*2306del | ENSP00000514616.1:n.*2306del | |
| ENST00000699816.1:c.*1665del | ENSP00000514617.1:n.*1665del | |
| ENST00000699817.1:c.*2369del | ENSP00000514618.1:n.*2369del | |
| ENST00000699818.1:c.*186del | ENSP00000514619.1:n.*186del | |
| ENST00000699819.1:c.*1932del | ENSP00000514620.1:n.*1932del | |
| ENST00000699820.1:c.*713del | ENSP00000514621.1:n.*713del | |
| ENST00000699821.1:c.*186del | ENSP00000514622.1:n.*186del | |
| ENST00000699833.1:n.4547del | ||
| ENST00000699838.1:c.*2675del | ENSP00000514636.1:n.*2675del | |
| ENST00000699839.1:c.*186del | ENSP00000514637.1:n.*186del | |
| ENST00000699916.1:c.*2032del | ENSP00000514684.1:n.*2032del | |
| ENST00000699917.1:c.*2224del | ENSP00000514685.1:n.*2224del | |
| ENST00000699918.1:c.*2276del | ENSP00000514686.1:n.*2276del | |
| ENST00000699919.1:c.*2362del | ENSP00000514687.1:n.*2362del | |
| ENST00000699920.1:c.*2411del | ENSP00000514688.1:n.*2411del | |
| ENST00000699928.1:c.*713del | ENSP00000514693.1:n.*713del | |
| ENST00000265849.12:c.*186del MANE Select | ENSP00000265849.7:n.*186del | |
| XM_006715742.2:c.*186del | XP_006715805.1:n.*186del | |
| XM_006715744.2:c.*186del | XP_006715807.1:n.*186del | |
| XM_011515427.1:c.*186del | XP_011513729.1:n.*186del | |
| XM_011515428.1:c.*186del | XP_011513730.1:n.*186del | |
| XM_011515429.1:c.*186del | XP_011513731.1:n.*186del | |
| XM_011515430.1:c.*186del | XP_011513732.1:n.*186del | |
| NM_000535.6:c.*186del | NP_000526.2:n.*186del | |
| NM_001322003.1:c.*186del | NP_001308932.1:n.*186del | |
| NM_001322004.1:c.*186del | NP_001308933.1:n.*186del | |
| NM_001322005.1:c.*186del | NP_001308934.1:n.*186del | |
| NM_001322006.1:c.*186del | NP_001308935.1:n.*186del | |
| NM_001322007.1:c.*186del | NP_001308936.1:n.*186del | |
| NM_001322008.1:c.*186del | NP_001308937.1:n.*186del | |
| NM_001322009.1:c.*186del | NP_001308938.1:n.*186del | |
| NM_001322010.1:c.*186del | NP_001308939.1:n.*186del | |
| NM_001322011.1:c.*186del | NP_001308940.1:n.*186del | |
| NM_001322012.1:c.*186del | NP_001308941.1:n.*186del | |
| NM_001322013.1:c.*186del | NP_001308942.1:n.*186del | |
| NM_001322014.1:c.*186del | NP_001308943.1:n.*186del | |
| NM_001322015.1:c.*186del | NP_001308944.1:n.*186del | |
| NR_136154.1:n.2819del | ||
| XM_006715744.4:c.*186del | XP_006715807.1:n.*186del | |
| XM_017012342.2:c.*186del | XP_016867831.1:n.*186del | |
| XM_024446800.1:c.*186del | XP_024302568.1:n.*186del | |
| NM_000535.7:c.*186del MANE Select | NP_000526.2:n.*186del | |
| NM_001322003.2:c.*186del | NP_001308932.1:n.*186del | |
| NM_001322004.2:c.*186del | NP_001308933.1:n.*186del | |
| NM_001322005.2:c.*186del | NP_001308934.1:n.*186del | |
| NM_001322006.2:c.*186del | NP_001308935.1:n.*186del | |
| NM_001322008.2:c.*186del | NP_001308937.1:n.*186del | |
| NM_001322009.2:c.*186del | NP_001308938.1:n.*186del | |
| NM_001322010.2:c.*186del | NP_001308939.1:n.*186del | |
| NM_001322011.2:c.*186del | NP_001308940.1:n.*186del | |
| NM_001322012.2:c.*186del | NP_001308941.1:n.*186del | |
| NM_001322013.2:c.*186del | NP_001308942.1:n.*186del | |
| NM_001322014.2:c.*186del | NP_001308943.1:n.*186del | |
| NM_001322015.2:c.*186del | NP_001308944.1:n.*186del | |
| NM_001322007.2:c.*186del | NP_001308936.1:n.*186del |