Linked Data
dbSNP Id:
rs1970381241
gnomAD v2:
17-4837178-ACCTCAGAGCCCG-A
gnomAD v4:
17-4933883-ACCTCAGAGCCCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933886_4933897del , CM000679.2:g.4933886_4933897del | GRCh38 |
| NC_000017.10:g.4837181_4837192del , CM000679.1:g.4837181_4837192del | GRCh37 |
| NG_008767.2:g.6592_6603del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1282_1293del (GP1BA) MANE Select | ENSP00000329380.5:p.Ser428_Ala431del | |
| ENST00000649830.1:c.-888+447_-888+458del (CHRNE) | ENSP00000496907.1:n.-888+447_-888+458del | |
| ENST00000329125.5:c.1282_1293del (GP1BA) | ENSP00000329380.5:p.Ser428_Ala431del | |
| ENST00000611961.1:c.1272+10_1272+21del (GP1BA) | ENSP00000484439.1:n.1272+10_1272+21del | |
| NM_000173.6:c.1282_1293del (GP1BA) | NP_000164.5:p.Ser428_Ala431del | |
| NM_000173.7:c.1282_1293del (GP1BA) MANE Select | NP_000164.5:p.Ser428_Ala431del |