Linked Data
dbSNP Id:
rs756595311
gnomAD v2:
1-100346686-TGTGCTAGTGGAA-T
gnomAD v4:
1-99881130-TGTGCTAGTGGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99881133_99881144del , CM000663.2:g.99881133_99881144del | GRCh38 |
| NC_000001.10:g.100346689_100346700del , CM000663.1:g.100346689_100346700del | GRCh37 |
| NC_000001.9:g.100119277_100119288del | NCBI36 |
| NG_012865.1:g.36050_36061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.1957_1968del MANE Select | ENSP00000355106.3:p.Ala653_Ser656del | |
| ENST00000637337.1:n.2168_2179del | ||
| ENST00000294724.8:c.1957_1968del | ENSP00000294724.4:p.Ala653_Ser656del | |
| ENST00000361302.7:c.1909_1920del | ENSP00000354971.3:p.Ala637_Ser640del | |
| ENST00000361522.4:c.1906_1917del | ENSP00000354635.4:p.Ala636_Ser639del | |
| ENST00000361915.7:c.1957_1968del | ENSP00000355106.3:p.Ala653_Ser656del | |
| ENST00000370161.6:c.1909_1920del | ENSP00000359180.2:p.Ala637_Ser640del | |
| ENST00000370163.7:c.1957_1968del | ENSP00000359182.3:p.Ala653_Ser656del | |
| ENST00000370165.7:c.1957_1968del | ENSP00000359184.3:p.Ala653_Ser656del | |
| NM_000028.2:c.1957_1968del | NP_000019.2:p.Ala653_Ser656del | |
| NM_000642.2:c.1957_1968del | NP_000633.2:p.Ala653_Ser656del | |
| NM_000643.2:c.1957_1968del | NP_000634.2:p.Ala653_Ser656del | |
| NM_000644.2:c.1957_1968del | NP_000635.2:p.Ala653_Ser656del | |
| NM_000645.2:c.1906_1917del | NP_000636.2:p.Ala636_Ser639del | |
| NM_000646.2:c.1909_1920del | NP_000637.2:p.Ala637_Ser640del | |
| XM_005270557.1:c.1957_1968del | XP_005270614.1:p.Ala653_Ser656del | |
| XM_005270557.2:c.1957_1968del | XP_005270614.1:p.Ala653_Ser656del | |
| XM_017000501.2:c.217_228del | XP_016855990.1:p.Ala73_Ser76del | |
| NM_000642.3:c.1957_1968del MANE Select | NP_000633.2:p.Ala653_Ser656del |