Linked Data
dbSNP Id:
rs777565707
ExAC:
17:39768464 ACT / A
gnomAD v2:
17-39768464-ACT-A
gnomAD v3:
17-41612212-ACT-A
gnomAD v4:
17-41612212-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612213_41612214del , CM000679.2:g.41612213_41612214del | GRCh38 |
| NC_000017.10:g.39768465_39768466del , CM000679.1:g.39768465_39768466del | GRCh37 |
| NC_000017.9:g.37021991_37021992del | NCBI36 |
| NG_008301.1:g.5614_5615del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.475_476del MANE Select | ENSP00000301653.3:p.Ser159Ter | |
| ENST00000301653.8:c.475_476del | ENSP00000301653.3:p.Ser159Ter | |
| ENST00000588319.1:n.552_553del | ||
| ENST00000593067.1:c.-240_-239del | ENSP00000467124.1:n.-240_-239del | |
| NM_005557.3:c.475_476del | NP_005548.2:p.Ser159Ter | |
| NM_005557.4:c.475_476del MANE Select | NP_005548.2:p.Ser159Ter |