Linked Data
dbSNP Id:
rs775114808
ExAC:
1:100380904 TG / T
gnomAD v2:
1-100380904-TG-T
gnomAD v3:
1-99915348-TG-T
gnomAD v4:
1-99915348-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99915349del , CM000663.2:g.99915349del | GRCh38 |
| NC_000001.10:g.100380905del , CM000663.1:g.100380905del | GRCh37 |
| NC_000001.9:g.100153493del | NCBI36 |
| NG_012865.1:g.70266del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.4162-40del MANE Select | ENSP00000355106.3:n.4162-40del | |
| ENST00000637337.1:n.4373-40del | ||
| ENST00000294724.8:c.4162-40del | ENSP00000294724.4:n.4162-40del | |
| ENST00000361302.7:c.4114-40del | ENSP00000354971.3:n.4114-40del | |
| ENST00000361522.4:c.4111-40del | ENSP00000354635.4:n.4111-40del | |
| ENST00000361915.7:c.4162-40del | ENSP00000355106.3:n.4162-40del | |
| ENST00000370161.6:c.4114-40del | ENSP00000359180.2:n.4114-40del | |
| ENST00000370163.7:c.4162-40del | ENSP00000359182.3:n.4162-40del | |
| ENST00000370165.7:c.4162-40del | ENSP00000359184.3:n.4162-40del | |
| NM_000028.2:c.4162-40del | NP_000019.2:n.4162-40del | |
| NM_000642.2:c.4162-40del | NP_000633.2:n.4162-40del | |
| NM_000643.2:c.4162-40del | NP_000634.2:n.4162-40del | |
| NM_000644.2:c.4162-40del | NP_000635.2:n.4162-40del | |
| NM_000645.2:c.4111-40del | NP_000636.2:n.4111-40del | |
| NM_000646.2:c.4114-40del | NP_000637.2:n.4114-40del | |
| XM_005270557.1:c.4162-40del | XP_005270614.1:n.4162-40del | |
| XR_947626.1:n.1318-2132del | ||
| XR_947627.1:n.1207-2132del | ||
| XR_947628.1:n.1312-2132del | ||
| XR_947630.1:n.1250-2132del | ||
| XR_947632.1:n.1136-2132del | ||
| XR_947633.1:n.1247-2132del | ||
| XR_947634.1:n.661-2132del | ||
| XR_947635.1:n.729-2132del | ||
| XM_005270557.2:c.4162-40del | XP_005270614.1:n.4162-40del | |
| XM_017000501.2:c.2422-40del | XP_016855990.1:n.2422-40del | |
| NM_000642.3:c.4162-40del MANE Select | NP_000633.2:n.4162-40del |