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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31790711_31790726del , CM000673.2:g.31790711_31790726del | GRCh38 |
| NC_000011.9:g.31812259_31812274del , CM000673.1:g.31812259_31812274del | GRCh37 |
| NC_000011.8:g.31768835_31768850del | NCBI36 |
| NG_008679.1:g.32238_32253del , LRG_720:g.32238_32253del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241001.13:c.1169_1183+1del | ||
| ENST00000379107.7:c.1211_1225+1del | ||
| ENST00000379109.7:c.1169_1183+1del | ||
| ENST00000379111.7:c.1169_1183+1del | ||
| ENST00000379123.10:c.761_775+1del | ||
| ENST00000379129.7:c.1211_1225+1del | ||
| ENST00000379132.8:c.1169_1183+1del | ||
| ENST00000419022.6:c.1211_1225+1del | ||
| ENST00000423822.7:c.1010_1024+1del | ||
| ENST00000464174.6:n.759_773+1del | ||
| ENST00000470027.7:n.3489_3503+1del | ||
| ENST00000471303.6:n.2335_2349+1del | ||
| ENST00000474783.2:n.4276_4290+1del | ||
| ENST00000481563.6:c.761_775+1del | ||
| ENST00000494377.7:n.1839-705_1839-690del | ||
| ENST00000524853.6:c.1169_1183+1del | ||
| ENST00000606377.7:c.1211_1225+1del | ||
| ENST00000638250.1:c.761_775+1del | ||
| ENST00000638346.1:c.761_775+1del | ||
| ENST00000638629.1:c.761_775+1del | ||
| ENST00000638685.1:c.520-705_520-690del | ENSP00000492316.1:n.520-705_520-690del | |
| ENST00000638696.1:c.1103_1117+1del | ||
| ENST00000638755.1:c.1061_1075+1del | ||
| ENST00000638802.1:c.761_775+1del | ||
| ENST00000638853.1:c.761_775+1del | ||
| ENST00000638913.1:n.2318_2332+1del | ||
| ENST00000638914.3:c.1211_1225+1del | ||
| ENST00000638963.1:c.1033-705_1033-690del | ENSP00000491948.1:n.1033-705_1033-690del | |
| ENST00000638965.1:c.566_580+1del | ||
| ENST00000639061.1:c.761_775+1del | ||
| ENST00000639109.1:c.761_775+1del | ||
| ENST00000639386.2:c.761_775+1del | ||
| ENST00000639394.1:c.*1050_*1064+1del | ||
| ENST00000639409.1:c.1211_1225+1del | ||
| ENST00000639548.1:c.761_775+1del | ||
| ENST00000639916.1:c.1169_1183+1del | ||
| ENST00000639950.1:c.1169_1183+1del | ||
| ENST00000640038.1:n.696_710+1del | ||
| ENST00000640125.1:c.761_775+1del | ||
| ENST00000640287.1:c.1169_1183+1del | ||
| ENST00000640368.2:c.1211_1225+1del | ||
| ENST00000640460.1:c.1169_1183+1del | ||
| ENST00000640610.1:c.1169_1183+1del | ||
| ENST00000640613.1:c.1010_1024+1del | ||
| ENST00000640735.1:n.1988_2002+1del | ||
| ENST00000640766.1:c.761_775+1del | ||
| ENST00000640872.1:c.761_775+1del | ||
| ENST00000640963.1:c.1075-705_1075-690del | ENSP00000492397.1:n.1075-705_1075-690del | |
| ENST00000640975.1:c.1211_1225+1del | ||
| ENST00000643871.1:c.1169_1183+1del | ||
| ENST00000241001.12:c.1169_1183+1del | ||
| ENST00000379107.6:c.1211_1225+1del | ||
| ENST00000379109.6:c.1169_1183+1del | ||
| ENST00000379111.6:c.1169_1183+1del | ||
| ENST00000379115.8:c.1211_1225+1del | ||
| ENST00000379123.9:c.1169_1183+1del | ||
| ENST00000379129.6:c.1211_1225+1del | ||
| ENST00000379132.7:c.1169_1183+1del | ||
| ENST00000419022.5:c.1211_1225+1del | ||
| ENST00000464174.5:n.775_789+1del | ||
| ENST00000470027.6:n.2744_2758+1del | ||
| ENST00000474783.1:n.586_600+1del | ||
| ENST00000494377.6:n.2362_2376+1del | ||
| ENST00000533333.5:n.6075_6089+1del | ||
| ENST00000606377.5:c.1211_1225+1del | ||
| NM_000280.4:c.1169_1183+1del | ||
| NM_001127612.1:c.1169_1183+1del | ||
| NM_001258462.1:c.1211_1225+1del | ||
| NM_001258463.1:c.1211_1225+1del | ||
| NM_001258464.1:c.1169_1183+1del | ||
| NM_001258465.1:c.1169_1183+1del | ||
| NM_001310158.1:c.1211_1225+1del | ||
| NM_001310160.1:c.761_775+1del | ||
| NM_001310161.1:c.761_775+1del | ||
| NM_001604.5:c.1211_1225+1del | ||
| XM_005252954.3:c.1211_1225+1del | ||
| XM_005252955.3:c.1169_1183+1del | ||
| XM_005252956.3:c.1169_1183+1del | ||
| XM_005252958.3:c.761_775+1del | ||
| XM_006718246.2:c.968_982+1del | ||
| XM_011520146.1:c.1415_1429+1del | ||
| XM_011520147.1:c.1373_1387+1del | ||
| XM_011520148.1:c.1214_1228+1del | ||
| XM_011520149.1:c.1211_1225+1del | ||
| XM_011520150.1:c.1211_1225+1del | ||
| XM_011520151.1:c.1172_1186+1del | ||
| XM_011520152.1:c.1010_1024+1del | ||
| XM_011520153.1:c.761_775+1del | ||
| NM_001127612.2:c.1169_1183+1del | ||
| NM_001258462.2:c.1211_1225+1del | ||
| NM_001258465.2:c.1169_1183+1del | ||
| NM_001310161.2:c.761_775+1del | ||
| NM_001368887.1:c.1169_1183+1del | ||
| NM_001368888.1:c.1169_1183+1del | ||
| NM_001368889.1:c.1169_1183+1del | ||
| NM_001368890.1:c.1169_1183+1del | ||
| NM_001368891.1:c.1169_1183+1del | ||
| NM_001368892.1:c.1211_1225+1del | ||
| NM_001368893.1:c.1211_1225+1del | ||
| NM_001368894.1:c.1211_1225+1del | ||
| NM_001368899.1:c.761_775+1del | ||
| NM_001368900.1:c.761_775+1del | ||
| NM_001368901.1:c.761_775+1del | ||
| NM_001368902.1:c.761_775+1del | ||
| NM_001368903.1:c.761_775+1del | ||
| NM_001368904.1:c.761_775+1del | ||
| NM_001368905.1:c.761_775+1del | ||
| NM_001368906.1:c.761_775+1del | ||
| NM_001368907.1:c.761_775+1del | ||
| NM_001368908.1:c.761_775+1del | ||
| NM_001368909.1:c.761_775+1del | ||
| NM_001368910.1:c.1412_1426+1del | ||
| NM_001368911.1:c.1078-705_1078-690del | NP_001355840.1:n.1078-705_1078-690del | |
| NM_001368912.1:c.1075-705_1075-690del | NP_001355841.1:n.1075-705_1075-690del | |
| NM_001368913.1:c.1075-705_1075-690del | NP_001355842.1:n.1075-705_1075-690del | |
| NM_001368914.1:c.1075-705_1075-690del | NP_001355843.1:n.1075-705_1075-690del | |
| NM_001368915.1:c.1033-705_1033-690del | NP_001355844.1:n.1033-705_1033-690del | |
| NM_001368916.1:c.1033-705_1033-690del | NP_001355845.1:n.1033-705_1033-690del | |
| NM_001368917.1:c.1033-705_1033-690del | NP_001355846.1:n.1033-705_1033-690del | |
| NM_001368918.1:c.1286_1300+1del | ||
| NM_001368919.1:c.1286_1300+1del | ||
| NM_001368920.1:c.1244_1258+1del | ||
| NM_001368921.1:c.874-705_874-690del | NP_001355850.1:n.874-705_874-690del | |
| NM_001368922.1:c.1010_1024+1del | ||
| NM_001368923.1:c.1010_1024+1del | ||
| NM_001368924.1:c.1010_1024+1del | ||
| NM_001368925.1:c.1010_1024+1del | ||
| NM_001368926.1:c.1010_1024+1del | ||
| NM_001368927.1:c.1010_1024+1del | ||
| NM_001368928.1:c.968_982+1del | ||
| NM_001368929.1:c.625-705_625-690del | NP_001355858.1:n.625-705_625-690del | |
| NM_001368930.1:c.566_580+1del | ||
| NR_160916.1:n.1414-705_1414-690del | ||
| NR_160917.1:n.1555_1569+1del | ||
| NM_000280.5:c.1169_1183+1del | ||
| NM_001127612.3:c.1169_1183+1del | ||
| NM_001258462.3:c.1211_1225+1del | ||
| NM_001258463.2:c.1211_1225+1del | ||
| NM_001258464.2:c.1169_1183+1del | ||
| NM_001258465.3:c.1169_1183+1del | ||
| NM_001310158.2:c.1211_1225+1del | ||
| NM_001310160.2:c.761_775+1del | ||
| NM_001310161.3:c.761_775+1del | ||
| NM_001368887.2:c.1169_1183+1del | ||
| NM_001368888.2:c.1169_1183+1del | ||
| NM_001368889.2:c.1169_1183+1del | ||
| NM_001368890.2:c.1169_1183+1del | ||
| NM_001368891.2:c.1169_1183+1del | ||
| NM_001368892.2:c.1211_1225+1del | ||
| NM_001368893.2:c.1211_1225+1del | ||
| NM_001368894.2:c.1211_1225+1del | ||
| NM_001368899.2:c.761_775+1del | ||
| NM_001368900.2:c.761_775+1del | ||
| NM_001368901.2:c.761_775+1del | ||
| NM_001368902.2:c.761_775+1del | ||
| NM_001368903.2:c.761_775+1del | ||
| NM_001368904.2:c.761_775+1del | ||
| NM_001368905.2:c.761_775+1del | ||
| NM_001368906.2:c.761_775+1del | ||
| NM_001368907.2:c.761_775+1del | ||
| NM_001368908.2:c.761_775+1del | ||
| NM_001368909.2:c.761_775+1del | ||
| NM_001368910.2:c.1412_1426+1del | ||
| NM_001368911.2:c.1078-705_1078-690del | NP_001355840.1:n.1078-705_1078-690del | |
| NM_001368912.2:c.1075-705_1075-690del | NP_001355841.1:n.1075-705_1075-690del | |
| NM_001368913.2:c.1075-705_1075-690del | NP_001355842.1:n.1075-705_1075-690del | |
| NM_001368914.2:c.1075-705_1075-690del | NP_001355843.1:n.1075-705_1075-690del | |
| NM_001368915.2:c.1033-705_1033-690del | NP_001355844.1:n.1033-705_1033-690del | |
| NM_001368916.2:c.1033-705_1033-690del | NP_001355845.1:n.1033-705_1033-690del | |
| NM_001368917.2:c.1033-705_1033-690del | NP_001355846.1:n.1033-705_1033-690del | |
| NM_001368918.2:c.1286_1300+1del | ||
| NM_001368919.2:c.1286_1300+1del | ||
| NM_001368920.2:c.1244_1258+1del | ||
| NM_001368921.2:c.874-705_874-690del | NP_001355850.1:n.874-705_874-690del | |
| NM_001368922.2:c.1010_1024+1del | ||
| NM_001368923.2:c.1010_1024+1del | ||
| NM_001368924.2:c.1010_1024+1del | ||
| NM_001368925.2:c.1010_1024+1del | ||
| NM_001368926.2:c.1010_1024+1del | ||
| NM_001368927.2:c.1010_1024+1del | ||
| NM_001368928.2:c.968_982+1del | ||
| NM_001368929.2:c.625-705_625-690del | NP_001355858.1:n.625-705_625-690del | |
| NM_001368930.2:c.566_580+1del | ||
| NM_001604.6:c.1211_1225+1del | ||
| NR_160916.2:n.1414-705_1414-690del | ||
| NR_160917.2:n.1555_1569+1del | ||
| NM_000280.6:c.1169_1183+1del |