Linked Data
dbSNP Id:
rs760968868
ExAC:
12:116460229 TA / T
gnomAD v2:
12-116460229-TA-T
gnomAD v3:
12-116022424-TA-T
gnomAD v4:
12-116022424-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.116022425del , CM000674.2:g.116022425del | GRCh38 |
| NC_000012.11:g.116460230del , CM000674.1:g.116460230del | GRCh37 |
| NC_000012.10:g.114944613del | NCBI36 |
| NG_023366.1:g.259762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.625+31del MANE Select | ENSP00000281928.3:n.625+31del | |
| ENST00000548743.2:c.595+31del | ENSP00000448553.2:n.595+31del | |
| ENST00000549786.2:c.53+31del | ||
| ENST00000647567.1:c.535+31del | ENSP00000497136.1:n.535+31del | |
| ENST00000648737.1:n.389+31del | ||
| ENST00000650226.1:c.625+31del | ENSP00000496981.1:n.625+31del | |
| ENST00000281928.7:c.625+31del | ENSP00000281928.3:n.625+31del | |
| NM_015335.4:c.625+31del | NP_056150.1:n.625+31del | |
| XM_011538080.1:c.625+31del | XP_011536382.1:n.625+31del | |
| XM_011538081.1:c.625+31del | XP_011536383.1:n.625+31del | |
| XM_011538082.1:c.595+31del | XP_011536384.1:n.595+31del | |
| XM_011538080.2:c.625+31del | XP_011536382.1:n.625+31del | |
| XM_011538081.2:c.625+31del | XP_011536383.1:n.625+31del | |
| XM_011538082.2:c.595+31del | XP_011536384.1:n.595+31del | |
| XM_017019090.1:c.625+31del | XP_016874579.1:n.625+31del | |
| NM_015335.5:c.625+31del MANE Select | NP_056150.1:n.625+31del |