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.8128075_8128076insA , CM000673.2:g.8128075_8128076insA | GRCh38 |
| NC_000011.9:g.8149622_8149623insA , CM000673.1:g.8149622_8149623insA | GRCh37 |
| NC_000011.8:g.8106198_8106199insA | NCBI36 |
| NG_030416.1:g.45968_45969insT | |
| NG_030416.2:g.45968_45969insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699457.1:n.397_398insT | ||
| ENST00000309737.11:c.522-1269_522-1268insT MANE Select | ENSP00000308820.6:n.522-1269_522-1268insT | |
| ENST00000309737.10:c.522-1269_522-1268insT | ENSP00000308820.6:n.522-1269_522-1268insT | |
| ENST00000335425.7:c.125-16939_125-16938insT | ENSP00000333988.7:n.125-16939_125-16938insT | |
| ENST00000343202.8:c.522-1272_522-1271insT | ENSP00000344904.4:n.522-1272_522-1271insT | |
| ENST00000425599.6:c.427+10196_427+10197insT | ENSP00000395320.2:n.427+10196_427+10197insT | |
| ENST00000524799.5:n.383-1272_383-1271insT | ||
| ENST00000526962.1:c.125-1272_125-1271insT | ENSP00000434787.1:n.125-1272_125-1271insT | |
| ENST00000528463.5:c.*439-1269_*439-1268insT | ENSP00000435244.1:n.*439-1269_*439-1268insT | |
| ENST00000530060.5:n.737+143_737+144insT | ||
| ENST00000531450.1:c.522-1185_522-1184insT | ENSP00000431658.1:n.522-1185_522-1184insT | |
| NM_001135109.2:c.125-16939_125-16938insT | NP_001128581.1:n.125-16939_125-16938insT | |
| NM_001206671.2:c.522-1269_522-1268insT | NP_001193600.1:n.522-1269_522-1268insT | |
| NM_001206672.2:c.427+10196_427+10197insT | NP_001193601.1:n.427+10196_427+10197insT | |
| NM_024557.4:c.522-1272_522-1271insT | NP_078833.3:n.522-1272_522-1271insT | |
| NR_045405.1:n.625-1269_625-1268insT | ||
| XM_006718317.2:c.522-1185_522-1184insT | XP_006718380.1:n.522-1185_522-1184insT | |
| XM_006718318.2:c.522-1272_522-1271insT | XP_006718381.1:n.522-1272_522-1271insT | |
| XR_428848.2:n.616-1185_616-1184insT | ||
| XR_428851.2:n.616-1185_616-1184insT | ||
| XR_930896.1:n.616-1185_616-1184insT | ||
| XR_930897.1:n.616-1185_616-1184insT | ||
| XR_930898.1:n.616-1185_616-1184insT | ||
| XR_930899.1:n.616-1185_616-1184insT | ||
| XR_930900.1:n.616-1185_616-1184insT | ||
| XR_930901.1:n.616-1269_616-1268insT | ||
| XR_930902.1:n.616-1272_616-1271insT | ||
| XR_930903.1:n.617-1269_617-1268insT | ||
| XR_930904.1:n.674+143_674+144insT | ||
| XR_930905.1:n.737+143_737+144insT | ||
| XR_930906.1:n.751+143_751+144insT | ||
| NM_001135109.3:c.125-16939_125-16938insT | NP_001128581.1:n.125-16939_125-16938insT | |
| NM_001206671.3:c.522-1269_522-1268insT | NP_001193600.1:n.522-1269_522-1268insT | |
| NM_001206672.3:c.427+10196_427+10197insT | NP_001193601.1:n.427+10196_427+10197insT | |
| NM_001346690.1:c.38+143_38+144insT | NP_001333619.1:n.38+143_38+144insT | |
| NM_001346691.1:c.521+9302_521+9303insT | NP_001333620.1:n.521+9302_521+9303insT | |
| NM_001346692.1:c.375-1272_375-1271insT | NP_001333621.1:n.375-1272_375-1271insT | |
| NM_001346693.1:c.375-1185_375-1184insT | NP_001333622.1:n.375-1185_375-1184insT | |
| NM_001346694.1:c.375-1269_375-1268insT | NP_001333623.1:n.375-1269_375-1268insT | |
| NM_024557.5:c.522-1272_522-1271insT | NP_078833.3:n.522-1272_522-1271insT | |
| NR_144484.1:n.533-1272_533-1271insT | ||
| NR_144485.1:n.676-1272_676-1271insT | ||
| NR_144497.1:n.230-1272_230-1271insT | ||
| XM_006718317.4:c.522-1185_522-1184insT | XP_006718380.1:n.522-1185_522-1184insT | |
| XM_006718318.4:c.522-1272_522-1271insT | XP_006718381.1:n.522-1272_522-1271insT | |
| XM_017018287.2:c.522-1185_522-1184insT | XP_016873776.1:n.522-1185_522-1184insT | |
| XM_024448684.1:c.375-1272_375-1271insT | XP_024304452.1:n.375-1272_375-1271insT | |
| XM_024448685.1:c.*39+143_*39+144insT | XP_024304453.1:n.*39+143_*39+144insT | |
| XM_024448686.1:c.*39+143_*39+144insT | XP_024304454.1:n.*39+143_*39+144insT | |
| XR_001747957.2:n.554-1272_554-1271insT | ||
| XR_001747959.2:n.2294+143_2294+144insT | ||
| XR_002957192.1:n.554-1272_554-1271insT | ||
| XR_002957193.1:n.554-1272_554-1271insT | ||
| XR_002957194.1:n.622-1185_622-1184insT | ||
| XR_002957195.1:n.553+9302_553+9303insT | ||
| XR_428848.4:n.554-1185_554-1184insT | ||
| XR_428851.4:n.554-1185_554-1184insT | ||
| XR_930896.3:n.554-1185_554-1184insT | ||
| XR_930897.3:n.554-1185_554-1184insT | ||
| XR_930898.3:n.554-1185_554-1184insT | ||
| XR_930900.3:n.554-1185_554-1184insT | ||
| XR_930901.3:n.554-1269_554-1268insT | ||
| XR_930903.3:n.622-1269_622-1268insT | ||
| XR_930904.3:n.2294+143_2294+144insT | ||
| XR_930905.3:n.2357+143_2357+144insT | ||
| NM_001206671.4:c.522-1269_522-1268insT MANE Select | NP_001193600.1:n.522-1269_522-1268insT | |
| NM_001135109.4:c.125-16939_125-16938insT | NP_001128581.1:n.125-16939_125-16938insT | |
| NM_001206672.4:c.427+10196_427+10197insT | NP_001193601.1:n.427+10196_427+10197insT | |
| NM_001346690.2:c.38+143_38+144insT | NP_001333619.1:n.38+143_38+144insT | |
| NM_001346691.2:c.521+9302_521+9303insT | NP_001333620.1:n.521+9302_521+9303insT | |
| NM_001346692.2:c.375-1272_375-1271insT | NP_001333621.1:n.375-1272_375-1271insT | |
| NM_001346693.2:c.375-1185_375-1184insT | NP_001333622.1:n.375-1185_375-1184insT | |
| NM_001346694.2:c.375-1269_375-1268insT | NP_001333623.1:n.375-1269_375-1268insT | |
| NM_024557.6:c.522-1272_522-1271insT | NP_078833.3:n.522-1272_522-1271insT | |
| NR_144484.2:n.464-1272_464-1271insT | ||
| NR_144485.2:n.607-1272_607-1271insT | ||
| NR_144497.2:n.161-1272_161-1271insT |