Linked Data
dbSNP Id:
rs767720295
ExAC:
8:75276169 C / CTA
gnomAD v2:
8-75276169-C-CTA
gnomAD v3:
8-74363934-C-CTA
gnomAD v4:
8-74363934-C-CTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74363935_74363936insAT , CM000670.2:g.74363935_74363936insAT | GRCh38 |
| NC_000008.10:g.75276170_75276171insAT , CM000670.1:g.75276170_75276171insAT | GRCh37 |
| NC_000008.9:g.75438725_75438726insAT | NCBI36 |
| NG_008787.2:g.47806_47807insAT | |
| NG_008787.3:g.47806_47807insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220822.12:c.695-50_695-49insAT MANE Select | ENSP00000220822.7:n.695-50_695-49insAT | |
| ENST00000434412.3:c.563-50_563-49insAT | ENSP00000417006.3:n.563-50_563-49insAT | |
| ENST00000520797.6:n.806-50_806-49insAT | ||
| ENST00000521096.6:n.551-50_551-49insAT | ||
| ENST00000522568.2:c.*367-50_*367-49insAT | ENSP00000430136.1:n.*367-50_*367-49insAT | |
| ENST00000523640.2:c.165+12614_165+12615insAT | ENSP00000502017.1:n.165+12614_165+12615insAT | |
| ENST00000524195.2:c.280+882_280+883insAT | ENSP00000502308.1:n.280+882_280+883insAT | |
| ENST00000674612.1:c.368-50_368-49insAT | ENSP00000501864.1:n.368-50_368-49insAT | |
| ENST00000674710.1:c.694+882_694+883insAT | ENSP00000502762.1:n.694+882_694+883insAT | |
| ENST00000674754.1:c.*2208_*2209insAT | ENSP00000502063.1:n.*2208_*2209insAT | |
| ENST00000674756.1:c.*366+882_*366+883insAT | ENSP00000501860.1:n.*366+882_*366+883insAT | |
| ENST00000674806.1:c.368-50_368-49insAT | ENSP00000502637.1:n.368-50_368-49insAT | |
| ENST00000674865.1:c.491-50_491-49insAT | ENSP00000502437.1:n.491-50_491-49insAT | |
| ENST00000674926.1:c.*1327-50_*1327-49insAT | ENSP00000501799.1:n.*1327-50_*1327-49insAT | |
| ENST00000674934.1:c.*383-50_*383-49insAT | ENSP00000502187.1:n.*383-50_*383-49insAT | |
| ENST00000674944.1:c.*1248_*1249insAT | ENSP00000501858.1:n.*1248_*1249insAT | |
| ENST00000674946.1:c.694+882_694+883insAT | ENSP00000501569.1:n.694+882_694+883insAT | |
| ENST00000674973.1:c.389-50_389-49insAT | ENSP00000502447.1:n.389-50_389-49insAT | |
| ENST00000675007.1:c.*433-50_*433-49insAT | ENSP00000502119.1:n.*433-50_*433-49insAT | |
| ENST00000675060.1:c.*360-50_*360-49insAT | ENSP00000501616.1:n.*360-50_*360-49insAT | |
| ENST00000675165.1:c.695-53_695-52insAT | ENSP00000502612.1:n.695-53_695-52insAT | |
| ENST00000675220.1:c.368-50_368-49insAT | ENSP00000502588.1:n.368-50_368-49insAT | |
| ENST00000675265.1:c.*445-50_*445-49insAT | ENSP00000501848.1:n.*445-50_*445-49insAT | |
| ENST00000675336.1:c.*181-50_*181-49insAT | ENSP00000502120.1:n.*181-50_*181-49insAT | |
| ENST00000675376.1:c.368-50_368-49insAT | ENSP00000502838.1:n.368-50_368-49insAT | |
| ENST00000675463.1:c.773-50_773-49insAT | ENSP00000502327.1:n.773-50_773-49insAT | |
| ENST00000675472.1:c.*181-50_*181-49insAT | ENSP00000501946.1:n.*181-50_*181-49insAT | |
| ENST00000675474.1:n.280-50_280-49insAT | ||
| ENST00000675560.1:c.*366+882_*366+883insAT | ENSP00000502118.1:n.*366+882_*366+883insAT | |
| ENST00000675625.1:c.*367-50_*367-49insAT | ENSP00000501626.1:n.*367-50_*367-49insAT | |
| ENST00000675633.1:c.*102-50_*102-49insAT | ENSP00000501785.1:n.*102-50_*102-49insAT | |
| ENST00000675661.1:c.*455-50_*455-49insAT | ENSP00000501958.1:n.*455-50_*455-49insAT | |
| ENST00000675706.1:n.2603_2604insAT | ||
| ENST00000675821.1:c.368-50_368-49insAT | ENSP00000502198.1:n.368-50_368-49insAT | |
| ENST00000675832.1:c.*367-50_*367-49insAT | ENSP00000502041.1:n.*367-50_*367-49insAT | |
| ENST00000675928.1:c.521-50_521-49insAT | ENSP00000501568.1:n.521-50_521-49insAT | |
| ENST00000675944.1:c.491-50_491-49insAT | ENSP00000502673.1:n.491-50_491-49insAT | |
| ENST00000675999.1:c.694+882_694+883insAT | ENSP00000502572.1:n.694+882_694+883insAT | |
| ENST00000676049.1:c.*597-50_*597-49insAT | ENSP00000501912.1:n.*597-50_*597-49insAT | |
| ENST00000676112.1:c.761-50_761-49insAT | ENSP00000502295.1:n.761-50_761-49insAT | |
| ENST00000676143.1:c.368-50_368-49insAT | ENSP00000502828.1:n.368-50_368-49insAT | |
| ENST00000676207.1:c.694+882_694+883insAT | ENSP00000502638.1:n.694+882_694+883insAT | |
| ENST00000676377.1:c.368-50_368-49insAT | ENSP00000502756.1:n.368-50_368-49insAT | |
| ENST00000676415.1:c.695-9_695-8insAT | ENSP00000502665.1:n.695-9_695-8insAT | |
| ENST00000676443.1:c.647-50_647-49insAT | ENSP00000501769.1:n.647-50_647-49insAT | |
| ENST00000220822.11:c.695-50_695-49insAT | ENSP00000220822.7:n.695-50_695-49insAT | |
| ENST00000434412.2:c.491-50_491-49insAT | ENSP00000417006.2:n.491-50_491-49insAT | |
| ENST00000520797.5:n.460-50_460-49insAT | ||
| ENST00000521096.5:n.501-50_501-49insAT | ||
| ENST00000522568.1:c.*367-50_*367-49insAT | ENSP00000430136.1:n.*367-50_*367-49insAT | |
| ENST00000524195.1:n.103+882_103+883insAT | ||
| ENST00000524366.5:n.539-50_539-49insAT | ||
| NM_001040875.2:c.491-50_491-49insAT | NP_001035808.1:n.491-50_491-49insAT | |
| NM_018972.2:c.695-50_695-49insAT | NP_061845.2:n.695-50_695-49insAT | |
| NR_046346.1:n.629-50_629-49insAT | ||
| XM_011517551.1:c.989-50_989-49insAT | XP_011515853.1:n.989-50_989-49insAT | |
| XM_011517552.1:c.368-50_368-49insAT | XP_011515854.1:n.368-50_368-49insAT | |
| NM_001040875.3:c.491-50_491-49insAT | NP_001035808.1:n.491-50_491-49insAT | |
| NM_001362929.1:c.368-50_368-49insAT | NP_001349858.1:n.368-50_368-49insAT | |
| NM_001362930.1:c.521-50_521-49insAT | NP_001349859.1:n.521-50_521-49insAT | |
| NM_001362931.1:c.694+882_694+883insAT | NP_001349860.1:n.694+882_694+883insAT | |
| NM_001362932.1:c.368-50_368-49insAT | NP_001349861.1:n.368-50_368-49insAT | |
| NM_018972.3:c.695-50_695-49insAT | NP_061845.2:n.695-50_695-49insAT | |
| NM_001362931.2:c.694+882_694+883insAT | NP_001349860.1:n.694+882_694+883insAT | |
| NM_018972.4:c.695-50_695-49insAT MANE Select | NP_061845.2:n.695-50_695-49insAT | |
| NM_001040875.4:c.491-50_491-49insAT | NP_001035808.1:n.491-50_491-49insAT | |
| NM_001362929.2:c.368-50_368-49insAT | NP_001349858.1:n.368-50_368-49insAT | |
| NM_001362930.2:c.521-50_521-49insAT | NP_001349859.1:n.521-50_521-49insAT | |
| NM_001362932.2:c.368-50_368-49insAT | NP_001349861.1:n.368-50_368-49insAT |