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.
Linked Data
gnomAD v4:
7-74054741-TAAGGCAGCTGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74054750_74054761del , CM000669.2:g.74054750_74054761del | GRCh38 |
| NC_000007.13:g.73469080_73469091del , CM000669.1:g.73469080_73469091del | GRCh37 |
| NC_000007.12:g.73107016_73107027del | NCBI36 |
| NG_009261.1:g.31654_31665del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692049.1:c.1131_1142del | ENSP00000510104.1:p.Ala378_Ala381del | |
| ENST00000252034.12:c.1131_1142del MANE Select | ENSP00000252034.7:p.Ala378_Ala381del | |
| ENST00000252034.11:c.1131_1142del | ENSP00000252034.7:p.Ala378_Ala381del | |
| ENST00000320399.10:c.1131_1142del | ENSP00000313565.6:p.Ala378_Ala381del | |
| ENST00000320492.11:c.1023_1034del | ENSP00000315607.7:p.Ala342_Ala345del | |
| ENST00000357036.9:c.1146_1157del | ENSP00000349540.5:p.Ala383_Ala386del | |
| ENST00000358929.8:c.1131_1142del | ENSP00000351807.5:p.Ala378_Ala381del | |
| ENST00000380553.8:c.780_791del | ENSP00000369926.4:p.Ala261_Ala264del | |
| ENST00000380562.8:c.1131_1142del | ENSP00000369936.4:p.Ala378_Ala381del | |
| ENST00000380575.8:c.1101_1112del | ENSP00000369949.4:p.Ala368_Ala371del | |
| ENST00000380576.9:c.1131_1142del | ENSP00000369950.5:p.Ala378_Ala381del | |
| ENST00000380584.8:c.1089_1100del | ENSP00000369958.4:p.Ala364_Ala367del | |
| ENST00000414324.5:c.1116_1127del | ENSP00000392575.1:p.Ala373_Ala376del | |
| ENST00000429192.5:c.1146_1157del | ENSP00000391129.1:p.Ala383_Ala386del | |
| ENST00000445912.5:c.1131_1142del | ENSP00000389857.1:p.Ala378_Ala381del | |
| ENST00000458204.5:c.1101_1112del | ENSP00000403162.1:p.Ala368_Ala371del | |
| ENST00000466878.5:n.450_461del | ||
| ENST00000492210.1:n.494_505del | ||
| ENST00000621115.4:c.999_1010del | ENSP00000480955.1:p.Ala334_Ala337del | |
| NM_000501.3:c.1131_1142del | NP_000492.2:p.Ala378_Ala381del | |
| NM_001081752.2:c.1101_1112del | NP_001075221.1:p.Ala368_Ala371del | |
| NM_001081753.2:c.1146_1157del | NP_001075222.1:p.Ala383_Ala386del | |
| NM_001081754.2:c.1146_1157del | NP_001075223.1:p.Ala383_Ala386del | |
| NM_001081755.2:c.1131_1142del | NP_001075224.1:p.Ala378_Ala381del | |
| NM_001278912.1:c.1131_1142del | NP_001265841.1:p.Ala378_Ala381del | |
| NM_001278913.1:c.1023_1034del | NP_001265842.1:p.Ala342_Ala345del | |
| NM_001278914.1:c.1116_1127del | NP_001265843.1:p.Ala373_Ala376del | |
| NM_001278915.1:c.1131_1142del | NP_001265844.1:p.Ala378_Ala381del | |
| NM_001278916.1:c.1089_1100del | NP_001265845.1:p.Ala364_Ala367del | |
| NM_001278917.1:c.1101_1112del | NP_001265846.1:p.Ala368_Ala371del | |
| NM_001278918.1:c.999_1010del | NP_001265847.1:p.Ala334_Ala337del | |
| NM_001278939.1:c.1131_1142del | NP_001265868.1:p.Ala378_Ala381del | |
| XM_005250187.1:c.1095_1106del | XP_005250244.1:p.Ala366_Ala369del | |
| XM_005250188.1:c.1089_1100del | XP_005250245.1:p.Ala364_Ala367del | |
| XM_011515868.1:c.1146_1157del | XP_011514170.1:p.Ala383_Ala386del | |
| XM_011515869.1:c.1116_1127del | XP_011514171.1:p.Ala373_Ala376del | |
| XM_011515870.1:c.1110_1121del | XP_011514172.1:p.Ala371_Ala374del | |
| XM_011515871.1:c.1104_1115del | XP_011514173.1:p.Ala369_Ala372del | |
| XM_011515872.1:c.1111+1441_1111+1452del | XP_011514174.1:n.1111+1441_1111+1452del | |
| XM_011515873.1:c.1146_1157del | XP_011514175.1:p.Ala383_Ala386del | |
| XM_011515874.1:c.1080_1091del | XP_011514176.1:p.Ala361_Ala364del | |
| XM_011515875.1:c.1065_1076del | XP_011514177.1:p.Ala356_Ala359del | |
| XM_011515876.1:c.1146_1157del | XP_011514178.1:p.Ala383_Ala386del | |
| XM_011515877.1:c.1111+1441_1111+1452del | XP_011514179.1:n.1111+1441_1111+1452del | |
| XM_005250187.2:c.1095_1106del | XP_005250244.1:p.Ala366_Ala369del | |
| XM_005250188.2:c.1089_1100del | XP_005250245.1:p.Ala364_Ala367del | |
| XM_011515868.2:c.1146_1157del | XP_011514170.1:p.Ala383_Ala386del | |
| XM_011515871.2:c.1104_1115del | XP_011514173.1:p.Ala369_Ala372del | |
| XM_011515872.2:c.1111+1441_1111+1452del | XP_011514174.1:n.1111+1441_1111+1452del | |
| XM_011515873.2:c.1146_1157del | XP_011514175.1:p.Ala383_Ala386del | |
| XM_011515875.2:c.1065_1076del | XP_011514177.1:p.Ala356_Ala359del | |
| XM_011515876.2:c.1146_1157del | XP_011514178.1:p.Ala383_Ala386del | |
| XM_011515877.2:c.1111+1441_1111+1452del | XP_011514179.1:n.1111+1441_1111+1452del | |
| XM_017011813.1:c.1059_1070del | XP_016867302.1:p.Ala354_Ala357del | |
| XM_017011814.2:c.1104_1115del | XP_016867303.1:p.Ala369_Ala372del | |
| NM_000501.4:c.1131_1142del MANE Select | NP_000492.2:p.Ala378_Ala381del | |
| NM_001081752.3:c.1101_1112del | NP_001075221.1:p.Ala368_Ala371del | |
| NM_001081753.3:c.1146_1157del | NP_001075222.1:p.Ala383_Ala386del | |
| NM_001081754.3:c.1146_1157del | NP_001075223.1:p.Ala383_Ala386del | |
| NM_001081755.3:c.1131_1142del | NP_001075224.1:p.Ala378_Ala381del | |
| NM_001278912.2:c.1131_1142del | NP_001265841.1:p.Ala378_Ala381del | |
| NM_001278913.2:c.1023_1034del | NP_001265842.1:p.Ala342_Ala345del | |
| NM_001278914.2:c.1116_1127del | NP_001265843.1:p.Ala373_Ala376del | |
| NM_001278915.2:c.1131_1142del | NP_001265844.1:p.Ala378_Ala381del | |
| NM_001278916.2:c.1089_1100del | NP_001265845.1:p.Ala364_Ala367del | |
| NM_001278917.2:c.1101_1112del | NP_001265846.1:p.Ala368_Ala371del | |
| NM_001278918.2:c.999_1010del | NP_001265847.1:p.Ala334_Ala337del | |
| NM_001278939.2:c.1131_1142del | NP_001265868.1:p.Ala378_Ala381del |