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_000023.11:g.31204115_31204121del , CM000685.2:g.31204115_31204121del | GRCh38 |
| NC_000023.10:g.31222232_31222238del , CM000685.1:g.31222232_31222238del | GRCh37 |
| NC_000023.9:g.31132153_31132159del | NCBI36 |
| NG_012232.1:g.2140490_2140496del , LRG_199:g.2140490_2140496del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.4496-2_4500del | ||
| ENST00000680162.2:c.446-2_450del | ||
| ENST00000680768.2:c.446-2_450del | ||
| ENST00000681989.1:n.448-2_452del | ||
| ENST00000682238.1:c.2270-2_2274del | ||
| ENST00000682322.1:c.446-2_450del | ||
| ENST00000682600.1:c.446-2_450del | ||
| ENST00000682769.1:n.448-2_452del | ||
| ENST00000683509.1:n.1167-2_1171del | ||
| ENST00000683675.1:n.749-2_753del | ||
| ENST00000683709.1:n.1168-2_1172del | ||
| ENST00000683957.1:n.3142-2_3146del | ||
| ENST00000684130.1:c.2270-2_2274del | ||
| ENST00000343523.7:c.1505-2_1509del | ||
| ENST00000357033.9:c.9650-2_9654del | ||
| ENST00000619831.5:c.5618-2_5622del | ||
| ENST00000620040.5:c.2270-2_2274del | ||
| ENST00000679641.1:c.446-2_450del | ||
| ENST00000680162.1:c.323-2_327del | ||
| ENST00000680355.1:c.446-2_450del | ||
| ENST00000680557.1:c.446-2_450del | ||
| ENST00000680768.1:c.389-2_393del | ||
| ENST00000680961.1:c.2270-2_2274del | ||
| ENST00000681153.1:c.446-2_450del | ||
| ENST00000681334.1:c.446-2_450del | ||
| ENST00000681654.1:n.580-2_584del | ||
| ENST00000343523.6:c.1463-2_1467del | ||
| ENST00000357033.8:c.9650-2_9654del | ||
| ENST00000358062.6:c.2738-2_2742del | ||
| ENST00000359836.5:c.2270-2_2274del | ||
| ENST00000361471.8:c.446-2_450del | ||
| ENST00000378677.6:c.9638-2_9642del | ||
| ENST00000378680.6:c.446-2_450del | ||
| ENST00000378702.8:c.446-2_450del | ||
| ENST00000378705.3:c.20-2_24del | ||
| ENST00000378707.7:c.2270-2_2274del | ||
| ENST00000378723.7:c.446-2_450del | ||
| ENST00000474231.5:c.2270-2_2274del | ||
| ENST00000541735.5:c.2270-2_2274del | ||
| ENST00000619831.4:c.9635-2_9639del | ||
| ENST00000620040.4:c.9647-2_9651del | ||
| NM_000109.3:c.9626-2_9630del | ||
| NM_004006.2:c.9650-2_9654del , LRG_199t1:c.9650-2_9654del | ||
| NM_004009.3:c.9638-2_9642del | ||
| NM_004010.3:c.9281-2_9285del | ||
| NM_004011.3:c.5627-2_5631del | ||
| NM_004012.3:c.5618-2_5622del | ||
| NM_004013.2:c.2270-2_2274del | ||
| NM_004014.2:c.1463-2_1467del | ||
| NM_004015.2:c.446-2_450del | ||
| NM_004016.2:c.446-2_450del | ||
| NM_004017.2:c.446-2_450del | ||
| NM_004018.2:c.446-2_450del | ||
| NM_004019.2:c.446-2_450del | ||
| NM_004020.3:c.2270-2_2274del | ||
| NM_004021.2:c.2270-2_2274del | ||
| NM_004022.2:c.2270-2_2274del | ||
| NM_004023.2:c.2270-2_2274del | ||
| XM_006724468.2:c.9650-2_9654del | ||
| XM_006724469.2:c.9626-2_9630del | ||
| XM_006724470.2:c.9650-2_9654del | ||
| XM_006724471.2:c.9650-2_9654del | ||
| XM_006724472.2:c.9521-2_9525del | ||
| XM_006724473.2:c.9512-2_9516del | ||
| XM_006724474.2:c.9650-2_9654del | ||
| XM_006724475.2:c.9650-2_9654del | ||
| XM_011545467.1:c.9527-2_9531del | ||
| XM_011545468.1:c.9650-2_9654del | ||
| XM_006724469.3:c.9626-2_9630del | ||
| XM_006724470.3:c.9650-2_9654del | ||
| XM_006724474.3:c.9650-2_9654del | ||
| XM_011545468.2:c.9650-2_9654del | ||
| XM_017029328.1:c.9650-2_9654del | ||
| XM_017029331.1:c.3824-2_3828del | ||
| NM_000109.4:c.9626-2_9630del | ||
| NM_004006.3:c.9650-2_9654del | ||
| NM_004011.4:c.5627-2_5631del | ||
| NM_004012.4:c.5618-2_5622del | ||
| NM_004015.3:c.446-2_450del | ||
| NM_004016.3:c.446-2_450del | ||
| NM_004017.3:c.446-2_450del | ||
| NM_004018.3:c.446-2_450del | ||
| NM_004019.3:c.446-2_450del | ||
| NM_004021.3:c.2270-2_2274del | ||
| NM_004023.3:c.2270-2_2274del | ||
| NM_004013.3:c.2270-2_2274del | ||
| NM_004014.3:c.1463-2_1467del | ||
| NM_004020.4:c.2270-2_2274del | ||
| NM_004022.3:c.2270-2_2274del |