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_000002.12:g.230216888del , CM000664.2:g.230216888del | GRCh38 |
| NC_000002.11:g.231081603del , CM000664.1:g.231081603del | GRCh37 |
| NC_000002.10:g.230789847del | NCBI36 |
| NG_008295.1:g.8225del , LRG_109:g.8225del | |
| NG_051286.1:g.18965del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462232.2:c.-462-1770del (SP110) | ENSP00000513566.1:n.-462-1770del | |
| ENST00000489597.2:c.40del (SP110) | ENSP00000513565.1:p.Gln14SerfsTer25 | |
| ENST00000698099.1:c.40del (SP110) | ENSP00000513563.1:p.Gln14SerfsTer25 | |
| ENST00000698100.1:c.40del (SP110) | ENSP00000513564.1:p.Gln14SerfsTer25 | |
| ENST00000698102.1:n.181del (SP110) | ||
| ENST00000698103.1:c.40del (SP110) | ENSP00000513567.1:p.Gln14SerfsTer25 | |
| ENST00000698104.1:n.181del (SP110) | ||
| ENST00000258381.11:c.40del (SP110) MANE Select | ENSP00000258381.6:p.Gln14SerfsTer25 | |
| ENST00000258382.10:c.40del (SP110) | ENSP00000258382.5:p.Gln14SerfsTer25 | |
| ENST00000358662.9:c.40del (SP110) | ENSP00000351488.4:p.Gln14SerfsTer25 | |
| ENST00000540870.5:c.58del (SP110) | ENSP00000439558.1:p.Gln20SerfsTer25 | |
| ENST00000258381.10:c.40del (SP110) | ENSP00000258381.6:p.Gln14SerfsTer25 | |
| ENST00000258382.9:c.40del (SP110) | ENSP00000258382.5:p.Gln14SerfsTer25 | |
| ENST00000358662.8:c.40del (SP110) | ENSP00000351488.4:p.Gln14SerfsTer25 | |
| ENST00000392048.7:c.40del (SP110) | ENSP00000375902.3:p.Gln14SerfsTer25 | |
| ENST00000409815.6:c.40del (SP110) | ENSP00000387172.2:p.Gln14SerfsTer25 | |
| ENST00000416610.1:c.40del (SP110) | ENSP00000399978.1:p.Gln14SerfsTer25 | |
| ENST00000455674.2:c.-32-67del (SP110) | ENSP00000393992.1:n.-32-67del | |
| ENST00000456542.5:c.-91+2814del (SP140) | ENSP00000475284.1:n.-91+2814del | |
| ENST00000462232.1:n.117-1770del (SP110) | ||
| ENST00000540870.4:c.58del | ENSP00000439558.1:p.Gln20SerfsTer25 | |
| NM_001185015.1:c.58del (SP110) | NP_001171944.1:p.Gln20SerfsTer25 | |
| NM_004509.3:c.40del (SP110) | NP_004500.3:p.Gln14SerfsTer25 | |
| NM_004510.3:c.40del (SP110) | NP_004501.3:p.Gln14SerfsTer25 | |
| NM_080424.2:c.40del , LRG_109t1:c.40del (SP110) | NP_536349.2:p.Gln14SerfsTer25 | |
| XM_005246525.2:c.58del (SP110) | XP_005246582.1:p.Gln20SerfsTer25 | |
| XM_006712487.2:c.58del (SP110) | XP_006712550.1:p.Gln20SerfsTer25 | |
| XM_006712489.2:c.58del (SP110) | XP_006712552.1:p.Gln20SerfsTer25 | |
| XM_011510517.1:c.-2+2814del (SP140) | XP_011508819.1:n.-2+2814del | |
| XM_011511088.1:c.58del (SP110) | XP_011509390.1:p.Gln20SerfsTer25 | |
| XM_011511089.1:c.40del (SP110) | XP_011509391.1:p.Gln14SerfsTer25 | |
| XM_011511090.1:c.58del (SP110) | XP_011509392.1:p.Gln20SerfsTer25 | |
| XM_011511091.1:c.58del (SP110) | XP_011509393.1:p.Gln20SerfsTer25 | |
| XM_011511092.1:c.-462-1770del (SP110) | XP_011509394.1:n.-462-1770del | |
| XM_005246525.4:c.58del (SP110) | XP_005246582.1:p.Gln20SerfsTer25 | |
| XM_006712487.3:c.58del (SP110) | XP_006712550.1:p.Gln20SerfsTer25 | |
| XM_006712489.4:c.58del (SP110) | XP_006712552.1:p.Gln20SerfsTer25 | |
| XM_011510517.3:c.-2+2814del (SP140) | XP_011508819.1:n.-2+2814del | |
| XM_011511088.3:c.58del (SP110) | XP_011509390.1:p.Gln20SerfsTer25 | |
| XM_011511089.3:c.40del (SP110) | XP_011509391.1:p.Gln14SerfsTer25 | |
| XM_011511090.3:c.58del (SP110) | XP_011509392.1:p.Gln20SerfsTer25 | |
| XM_011511091.3:c.58del (SP110) | XP_011509393.1:p.Gln20SerfsTer25 | |
| XM_011511092.3:c.-462-1770del (SP110) | XP_011509394.1:n.-462-1770del | |
| XM_017003968.2:c.58del (SP110) | XP_016859457.1:p.Gln20SerfsTer25 | |
| XM_017003969.1:c.58del (SP110) | XP_016859458.1:p.Gln20SerfsTer25 | |
| XM_024452850.1:c.58del (SP110) | XP_024308618.1:p.Gln20SerfsTer25 | |
| XM_024452851.1:c.40del (SP110) | XP_024308619.1:p.Gln14SerfsTer25 | |
| NM_001185015.2:c.58del (SP110) | NP_001171944.1:p.Gln20SerfsTer25 | |
| NM_004509.4:c.40del (SP110) | NP_004500.4:p.Gln14SerfsTer25 | |
| NM_004510.4:c.40del (SP110) | NP_004501.4:p.Gln14SerfsTer25 | |
| NM_080424.3:c.40del (SP110) | NP_536349.3:p.Gln14SerfsTer25 | |
| NM_001378442.1:c.58del (SP110) | NP_001365371.1:p.Gln20SerfsTer25 | |
| NM_001378443.1:c.40del (SP110) | NP_001365372.1:p.Gln14SerfsTer25 | |
| NM_001378444.1:c.58del (SP110) | NP_001365373.1:p.Gln20SerfsTer25 | |
| NM_001378445.1:c.58del (SP110) | NP_001365374.1:p.Gln20SerfsTer25 | |
| NM_001378446.1:c.58del (SP110) | NP_001365375.1:p.Gln20SerfsTer25 | |
| NM_001378447.1:c.40del (SP110) | NP_001365376.1:p.Gln14SerfsTer25 | |
| NM_004509.5:c.40del (SP110) | NP_004500.4:p.Gln14SerfsTer25 | |
| NM_080424.4:c.40del (SP110) MANE Select | NP_536349.3:p.Gln14SerfsTer25 |