Linked Data
dbSNP Id:
rs768999731
gnomAD v2:
14-91772256-CTGCAGAGCT-C
gnomAD v4:
14-91305912-CTGCAGAGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91305913_91305921del , CM000676.2:g.91305913_91305921del | GRCh38 |
| NC_000014.8:g.91772257_91772265del , CM000676.1:g.91772257_91772265del | GRCh37 |
| NC_000014.7:g.90842010_90842018del | NCBI36 |
| NG_033118.1:g.116924_116932del | |
| NG_033118.2:g.116924_116932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.3201_3209del MANE Select | ENSP00000374507.6:p.Ala1068_Gln1070del | |
| ENST00000389857.10:c.3201_3209del | ENSP00000374507.6:p.Ala1068_Gln1070del | |
| NM_001080414.3:c.3201_3209del | NP_001073883.2:p.Ala1068_Gln1070del | |
| XM_005267691.3:c.3201_3209del | XP_005267748.1:p.Ala1068_Gln1070del | |
| XM_011536796.1:c.3093_3101del | XP_011535098.1:p.Ala1032_Gln1034del | |
| XR_429316.2:n.3329_3337del | ||
| XR_943459.1:n.3329_3337del | ||
| XM_005267691.5:c.3201_3209del | XP_005267748.1:p.Ala1068_Gln1070del | |
| XM_011536796.2:c.3093_3101del | XP_011535098.1:p.Ala1032_Gln1034del | |
| XM_017021335.2:c.3201_3209del | XP_016876824.1:p.Ala1068_Gln1070del | |
| XM_017021336.1:c.282_290del | XP_016876825.1:p.Ala95_Gln97del | |
| XR_429316.4:n.3327_3335del | ||
| NM_001080414.4:c.3201_3209del MANE Select | NP_001073883.2:p.Ala1068_Gln1070del |