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_000017.11:g.46023916G= , CM000679.2:g.46023916G= | GRCh38 |
| NC_000017.10:g.44101282G= , CM000679.1:g.44101282G= | GRCh37 |
| NC_000017.9:g.41457127G= | NCBI36 |
| NG_007398.1:g.134504G= | |
| NG_007398.2:g.134454G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.1024-40G= | ENSP00000413056.2:n.1024-40G= | |
| ENST00000703922.1:c.1024-40G= | ENSP00000515557.1:n.1024-40G= | |
| ENST00000703923.1:c.937-40G= | ENSP00000515558.1:n.937-40G= | |
| ENST00000703924.1:c.1024-40G= | ENSP00000515559.1:n.1024-40G= | |
| ENST00000703978.1:c.1111-40G= | ENSP00000515600.1:n.1111-40G= | |
| ENST00000703980.1:n.337-40G= | ||
| ENST00000703981.1:n.295-40G= | ||
| ENST00000703982.1:n.529-40G= | ||
| ENST00000262410.10:c.2287-40G= MANE Select | ENSP00000262410.6:n.2287-40G= | |
| ENST00000344290.10:c.1996-40G= | ENSP00000340820.6:n.1996-40G= | |
| ENST00000351559.10:c.1111-40G= | ENSP00000303214.7:n.1111-40G= | |
| ENST00000535772.6:c.931-40G= | ENSP00000443028.2:n.931-40G= | |
| ENST00000680542.1:c.1024-40G= | ENSP00000505258.1:n.1024-40G= | |
| ENST00000680674.1:c.1060-40G= | ENSP00000505478.1:n.1060-40G= | |
| ENST00000262410.9:c.2062-40G= | ENSP00000262410.5:n.2062-40G= | |
| ENST00000334239.12:c.844-40G= | ENSP00000334886.8:n.844-40G= | |
| ENST00000340799.9:c.1024-40G= | ENSP00000340438.5:n.1024-40G= | |
| ENST00000344290.9:c.2116-40G= | ENSP00000340820.5:n.2116-40G= | |
| ENST00000351559.9:c.1111-40G= | ENSP00000303214.7:n.1111-40G= | |
| ENST00000415613.6:c.2116-40G= | ENSP00000410838.2:n.2116-40G= | |
| ENST00000420682.6:c.1024-40G= | ENSP00000413056.2:n.1024-40G= | |
| ENST00000431008.7:c.1018-40G= | ENSP00000389250.3:n.1018-40G= | |
| ENST00000446361.7:c.937-40G= | ENSP00000408975.3:n.937-40G= | |
| ENST00000535772.5:c.1018-40G= | ENSP00000443028.1:n.1018-40G= | |
| ENST00000571987.5:c.2062-40G= | ENSP00000458742.1:n.2062-40G= | |
| ENST00000574436.5:c.1111-40G= | ENSP00000460965.1:n.1111-40G= | |
| ENST00000576518.1:n.6303-40G= | ||
| NM_001123066.3:c.2116-40G= | NP_001116538.2:n.2116-40G= | |
| NM_001123067.3:c.1024-40G= | NP_001116539.1:n.1024-40G= | |
| NM_001203251.1:c.931-40G= | NP_001190180.1:n.931-40G= | |
| NM_001203252.1:c.1018-40G= | NP_001190181.1:n.1018-40G= | |
| NM_005910.5:c.1111-40G= | NP_005901.2:n.1111-40G= | |
| NM_016834.4:c.937-40G= | NP_058518.1:n.937-40G= | |
| NM_016835.4:c.2062-40G= | NP_058519.3:n.2062-40G= | |
| NM_016841.4:c.844-40G= | NP_058525.1:n.844-40G= | |
| XM_005257362.3:c.2374-40G= | XP_005257419.1:n.2374-40G= | |
| XM_005257364.3:c.2287-40G= | XP_005257421.1:n.2287-40G= | |
| XM_005257365.3:c.2281-40G= | XP_005257422.1:n.2281-40G= | |
| XM_005257366.2:c.2200-40G= | XP_005257423.1:n.2200-40G= | |
| XM_005257367.3:c.2176-40G= | XP_005257424.1:n.2176-40G= | |
| XM_005257368.3:c.2083-40G= | XP_005257425.1:n.2083-40G= | |
| XM_005257369.3:c.1309-40G= | XP_005257426.1:n.1309-40G= | |
| XM_005257370.3:c.1222-40G= | XP_005257427.1:n.1222-40G= | |
| XM_005257371.3:c.1135-40G= | XP_005257428.1:n.1135-40G= | |
| XM_005257362.4:c.2374-40G= | XP_005257419.1:n.2374-40G= | |
| XM_005257364.4:c.2287-40G= | XP_005257421.1:n.2287-40G= | |
| XM_005257365.4:c.2281-40G= | XP_005257422.1:n.2281-40G= | |
| XM_005257366.3:c.2200-40G= | XP_005257423.1:n.2200-40G= | |
| XM_005257367.4:c.2176-40G= | XP_005257424.1:n.2176-40G= | |
| XM_005257368.4:c.2083-40G= | XP_005257425.1:n.2083-40G= | |
| XM_005257369.4:c.1309-40G= | XP_005257426.1:n.1309-40G= | |
| XM_005257370.4:c.1222-40G= | XP_005257427.1:n.1222-40G= | |
| XM_005257371.4:c.1135-40G= | XP_005257428.1:n.1135-40G= | |
| NM_001203251.2:c.931-40G= | NP_001190180.1:n.931-40G= | |
| NM_001377265.1:c.2287-40G= MANE Select | NP_001364194.1:n.2287-40G= | |
| NM_001377266.1:c.1996-40G= | NP_001364195.1:n.1996-40G= | |
| NM_001377267.1:c.772-1201G= | NP_001364196.1:n.772-1201G= | |
| NM_001377268.1:c.844-40G= | NP_001364197.1:n.844-40G= | |
| NM_016834.5:c.937-40G= | NP_058518.1:n.937-40G= | |
| NM_016841.5:c.844-40G= | NP_058525.1:n.844-40G= | |
| NR_165166.1:n.942-40G= | ||
| NM_001123066.4:c.2116-40G= | NP_001116538.2:n.2116-40G= | |
| NM_001123067.4:c.1024-40G= | NP_001116539.1:n.1024-40G= | |
| NM_001203252.2:c.1018-40G= | NP_001190181.1:n.1018-40G= | |
| NM_005910.6:c.1111-40G= | NP_005901.2:n.1111-40G= | |
| NM_016835.5:c.2062-40G= | NP_058519.3:n.2062-40G= |