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.190978721_190978723del , CM000664.2:g.190978721_190978723del | GRCh38 |
| NC_000002.11:g.191843447_191843449del , CM000664.1:g.191843447_191843449del | GRCh37 |
| NC_000002.10:g.191551692_191551694del | NCBI36 |
| NG_008294.1:g.40530_40532del , LRG_111:g.40530_40532del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698141.1:c.1873+135_1873+137del | ENSP00000513582.1:n.1873+135_1873+137del | |
| ENST00000698142.1:c.1813+135_1813+137del | ENSP00000513583.1:n.1813+135_1813+137del | |
| ENST00000698143.1:n.3746+135_3746+137del | ||
| ENST00000698144.1:c.*1199+135_*1199+137del | ENSP00000513584.1:n.*1199+135_*1199+137del | |
| ENST00000698145.1:c.634-8972_634-8970del | ENSP00000513585.1:n.634-8972_634-8970del | |
| ENST00000698146.1:c.*1623+135_*1623+137del | ENSP00000513586.1:n.*1623+135_*1623+137del | |
| ENST00000698147.1:n.3393+135_3393+137del | ||
| ENST00000698148.1:n.3723+135_3723+137del | ||
| ENST00000698149.1:c.1873+135_1873+137del | ENSP00000513587.1:n.1873+135_1873+137del | |
| ENST00000698150.1:n.109_111del | ||
| ENST00000361099.8:c.1873+135_1873+137del MANE Select | ENSP00000354394.4:n.1873+135_1873+137del | |
| ENST00000415035.2:c.1873+135_1873+137del | ENSP00000388240.2:n.1873+135_1873+137del | |
| ENST00000423282.2:c.129-1696_129-1694del | ENSP00000388772.2:n.129-1696_129-1694del | |
| ENST00000452281.6:c.*1199+135_*1199+137del | ENSP00000394512.1:n.*1199+135_*1199+137del | |
| ENST00000540176.6:c.1873+135_1873+137del | ENSP00000438703.2:n.1873+135_1873+137del | |
| ENST00000673734.1:c.*1040+135_*1040+137del | ENSP00000501040.1:n.*1040+135_*1040+137del | |
| ENST00000673762.1:n.372+135_372+137del | ||
| ENST00000673777.1:c.1867+135_1867+137del | ENSP00000500982.1:n.1867+135_1867+137del | |
| ENST00000673816.1:c.1873+135_1873+137del | ENSP00000501127.1:n.1873+135_1873+137del | |
| ENST00000673832.1:n.425+135_425+137del | ||
| ENST00000673841.1:c.1873+135_1873+137del | ENSP00000501225.1:n.1873+135_1873+137del | |
| ENST00000673847.1:c.1873+135_1873+137del | ENSP00000501185.1:n.1873+135_1873+137del | |
| ENST00000673858.1:c.*1199+135_*1199+137del | ENSP00000501196.1:n.*1199+135_*1199+137del | |
| ENST00000673863.1:c.582+135_582+137del | ENSP00000501286.1:n.582+135_582+137del | |
| ENST00000673885.1:c.*59+135_*59+137del | ENSP00000501159.1:n.*59+135_*59+137del | |
| ENST00000673942.1:c.1867+135_1867+137del | ENSP00000501145.1:n.1867+135_1867+137del | |
| ENST00000673952.1:c.1873+135_1873+137del | ENSP00000501115.1:n.1873+135_1873+137del | |
| ENST00000674028.1:n.311-1680_311-1678del | ||
| ENST00000674080.1:c.1873+135_1873+137del | ENSP00000501164.1:n.1873+135_1873+137del | |
| ENST00000674081.1:c.1873+135_1873+137del | ENSP00000501289.1:n.1873+135_1873+137del | |
| ENST00000674153.1:c.1874-115_1874-113del | ENSP00000501120.1:n.1874-115_1874-113del | |
| ENST00000361099.7:c.1873+135_1873+137del | ENSP00000354394.3:n.1873+135_1873+137del | |
| ENST00000392322.7:c.1873+135_1873+137del | ENSP00000376136.3:n.1873+135_1873+137del | |
| ENST00000392323.6:c.1879+135_1879+137del | ENSP00000376137.2:n.1879+135_1879+137del | |
| ENST00000409465.5:c.1873+135_1873+137del | ENSP00000386244.1:n.1873+135_1873+137del | |
| ENST00000452281.5:c.*1199+135_*1199+137del | ENSP00000394512.1:n.*1199+135_*1199+137del | |
| ENST00000464072.1:n.635_637del | ||
| ENST00000540176.5:c.*1199+135_*1199+137del | ENSP00000438703.1:n.*1199+135_*1199+137del | |
| NM_007315.3:c.1873+135_1873+137del , LRG_111t1:c.1873+135_1873+137del | NP_009330.1:n.1873+135_1873+137del | |
| NM_139266.2:c.1873+135_1873+137del | NP_644671.1:n.1873+135_1873+137del | |
| XM_006712718.1:c.1873+135_1873+137del | XP_006712781.1:n.1873+135_1873+137del | |
| XM_017004783.2:c.1879+135_1879+137del | XP_016860272.1:n.1879+135_1879+137del | |
| XR_001738914.2:n.2266+135_2266+137del | ||
| XR_001738915.2:n.2208+135_2208+137del | ||
| NM_007315.4:c.1873+135_1873+137del MANE Select | NP_009330.1:n.1873+135_1873+137del | |
| NM_001384880.1:c.1813+135_1813+137del | NP_001371809.1:n.1813+135_1813+137del | |
| NM_001384881.1:c.1879+135_1879+137del | NP_001371810.1:n.1879+135_1879+137del | |
| NM_001384882.1:c.1867+135_1867+137del | NP_001371811.1:n.1867+135_1867+137del | |
| NM_001384883.1:c.1774+135_1774+137del | NP_001371812.1:n.1774+135_1774+137del | |
| NM_001384884.1:c.1879+135_1879+137del | NP_001371813.1:n.1879+135_1879+137del | |
| NM_001384885.1:c.1714+135_1714+137del | NP_001371814.1:n.1714+135_1714+137del | |
| NM_001384886.1:c.1873+135_1873+137del | NP_001371815.1:n.1873+135_1873+137del | |
| NM_001384887.1:c.1780+135_1780+137del | NP_001371816.1:n.1780+135_1780+137del | |
| NM_001384888.1:c.1843+135_1843+137del | NP_001371817.1:n.1843+135_1843+137del | |
| NM_001384889.1:c.1873+135_1873+137del | NP_001371818.1:n.1873+135_1873+137del | |
| NM_001384890.1:c.1783+135_1783+137del | NP_001371819.1:n.1783+135_1783+137del | |
| NM_001384891.1:c.1909+135_1909+137del | NP_001371820.1:n.1909+135_1909+137del | |
| NM_139266.3:c.1873+135_1873+137del | NP_644671.1:n.1873+135_1873+137del |