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:
7-151632116-CCCAGGGCCGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151632121_151632132del , CM000669.2:g.151632121_151632132del | GRCh38 |
| NC_000007.13:g.151329207_151329218del , CM000669.1:g.151329207_151329218del | GRCh37 |
| NC_000007.12:g.150960140_150960151del | NCBI36 |
| NG_007486.1:g.250103_250114del | |
| NG_007486.2:g.250104_250115del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.-29_-18del | ENSP00000420645.3:n.-29_-18del | |
| ENST00000652321.2:c.695_706del | ENSP00000498886.2:p.Ala232_Leu235del | |
| ENST00000287878.9:c.695_706del MANE Select | ENSP00000287878.3:p.Ala232_Leu235del | |
| ENST00000476632.2:c.-29_-18del | ENSP00000419493.2:n.-29_-18del | |
| ENST00000491938.6:n.41_52del | ||
| ENST00000492843.6:c.323_334del | ENSP00000419577.2:p.Ala108_Leu111del | |
| ENST00000650858.1:c.-29-36674_-29-36663del | ENSP00000498384.1:n.-29-36674_-29-36663del | |
| ENST00000650948.1:n.810_821del | ||
| ENST00000651188.1:c.553-36677_553-36666del | ENSP00000498557.1:n.553-36677_553-36666del | |
| ENST00000651303.1:c.563_574del | ENSP00000498428.1:p.Ala188_Leu191del | |
| ENST00000651378.1:c.-29_-18del | ENSP00000499103.1:n.-29_-18del | |
| ENST00000651764.1:c.563_574del | ENSP00000498796.1:p.Ala188_Leu191del | |
| ENST00000651836.1:c.466_477del | ENSP00000499156.1:n.466_477del | |
| ENST00000652047.1:c.563_574del | ENSP00000499111.1:p.Ala188_Leu191del | |
| ENST00000652136.1:n.431_442del | ||
| ENST00000652159.1:c.563_574del | ENSP00000499025.1:p.Ala188_Leu191del | |
| ENST00000652321.1:c.695_706del | ENSP00000498886.1:p.Ala232_Leu235del | |
| ENST00000652397.1:c.-29_-18del | ENSP00000498351.1:n.-29_-18del | |
| ENST00000652572.1:n.76_87del | ||
| ENST00000652707.1:c.563_574del | ENSP00000498954.1:p.Ala188_Leu191del | |
| ENST00000287878.8:c.695_706del | ENSP00000287878.3:p.Ala232_Leu235del | |
| ENST00000392801.6:c.563_574del | ENSP00000376549.2:p.Ala188_Leu191del | |
| ENST00000418337.6:c.-29_-18del | ENSP00000387386.2:n.-29_-18del | |
| ENST00000476632.1:c.-29_-18del | ENSP00000419493.1:n.-29_-18del | |
| ENST00000483775.1:n.100_111del | ||
| ENST00000488258.5:c.685-36674_685-36663del | ENSP00000420783.1:n.685-36674_685-36663del | |
| ENST00000491938.5:n.41_52del | ||
| ENST00000492843.5:c.323_334del | ENSP00000419577.1:p.Ala108_Leu111del | |
| ENST00000493872.5:c.-29_-18del | ENSP00000417252.1:n.-29_-18del | |
| NM_001040633.1:c.563_574del | NP_001035723.1:p.Ala188_Leu191del | |
| NM_001304527.1:c.323_334del | NP_001291456.1:p.Ala108_Leu111del | |
| NM_001304531.1:c.-29_-18del | NP_001291460.1:n.-29_-18del | |
| NM_016203.3:c.695_706del | NP_057287.2:p.Ala232_Leu235del | |
| NM_024429.1:c.-29_-18del | NP_077747.1:n.-29_-18del | |
| XM_005250002.2:c.695_706del | XP_005250059.1:p.Ala232_Leu235del | |
| XM_005250004.2:c.563_574del | XP_005250061.1:p.Ala188_Leu191del | |
| XM_005250006.3:c.323_334del | XP_005250063.1:p.Ala108_Leu111del | |
| XM_006716021.2:c.683_694del | XP_006716084.1:p.Ala228_Leu231del | |
| XM_011516282.1:c.683_694del | XP_011514584.1:p.Ala228_Leu231del | |
| XM_011516283.1:c.683_694del | XP_011514585.1:p.Ala228_Leu231del | |
| XM_011516284.1:c.683_694del | XP_011514586.1:p.Ala228_Leu231del | |
| XM_011516285.1:c.-29_-18del | XP_011514587.1:n.-29_-18del | |
| XM_011516287.1:c.-29-36674_-29-36663del | XP_011514589.1:n.-29-36674_-29-36663del | |
| NM_001363698.1:c.323_334del | NP_001350627.1:p.Ala108_Leu111del | |
| XM_005250002.4:c.695_706del | XP_005250059.1:p.Ala232_Leu235del | |
| XM_005250004.4:c.563_574del | XP_005250061.1:p.Ala188_Leu191del | |
| XM_005250006.5:c.323_334del | XP_005250063.1:p.Ala108_Leu111del | |
| XM_011516285.2:c.-29_-18del | XP_011514587.1:n.-29_-18del | |
| XM_017012268.2:c.563_574del | XP_016867757.1:p.Ala188_Leu191del | |
| XM_017012269.1:c.695_706del | XP_016867758.1:p.Ala232_Leu235del | |
| XM_017012270.1:c.563_574del | XP_016867759.1:p.Ala188_Leu191del | |
| XM_017012271.2:c.563_574del | XP_016867760.1:p.Ala188_Leu191del | |
| XM_017012272.1:c.563_574del | XP_016867761.1:p.Ala188_Leu191del | |
| XM_017012274.2:c.-29_-18del | XP_016867763.1:n.-29_-18del | |
| XM_017012275.2:c.-26-36677_-26-36666del | XP_016867764.1:n.-26-36677_-26-36666del | |
| XM_017012276.2:c.-29_-18del | XP_016867765.1:n.-29_-18del | |
| XM_017012278.1:c.-29-36674_-29-36663del | XP_016867767.1:n.-29-36674_-29-36663del | |
| XM_017012279.2:c.-29-36674_-29-36663del | XP_016867768.1:n.-29-36674_-29-36663del | |
| XM_017012280.2:c.-26-36677_-26-36666del | XP_016867769.1:n.-26-36677_-26-36666del | |
| XM_017012281.2:c.-26-36677_-26-36666del | XP_016867770.1:n.-26-36677_-26-36666del | |
| XM_024446786.1:c.563_574del | XP_024302554.1:p.Ala188_Leu191del | |
| XM_024446787.1:c.-29_-18del | XP_024302555.1:n.-29_-18del | |
| XM_024446788.1:c.-29_-18del | XP_024302556.1:n.-29_-18del | |
| XM_024446789.1:c.-29_-18del | XP_024302557.1:n.-29_-18del | |
| NM_016203.4:c.695_706del MANE Select | NP_057287.2:p.Ala232_Leu235del | |
| NM_001040633.2:c.563_574del | NP_001035723.1:p.Ala188_Leu191del | |
| NM_001304527.2:c.323_334del | NP_001291456.1:p.Ala108_Leu111del | |
| NM_001304531.2:c.-29_-18del | NP_001291460.1:n.-29_-18del | |
| NM_001363698.2:c.323_334del | NP_001350627.1:p.Ala108_Leu111del | |
| NM_024429.2:c.-29_-18del | NP_077747.1:n.-29_-18del |