Linked Data
dbSNP Id:
rs778326352
ExAC:
17:39768634 CA / C
gnomAD v3:
17-41612382-CA-C
gnomAD v4:
17-41612382-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612385del , CM000679.2:g.41612385del | GRCh38 |
| NC_000017.10:g.39768637del , CM000679.1:g.39768637del | GRCh37 |
| NC_000017.9:g.37022163del | NCBI36 |
| NG_008301.1:g.5445del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.306del MANE Select | ENSP00000301653.3:p.Phe102LeufsTer18 | |
| ENST00000301653.8:c.306del | ENSP00000301653.3:p.Phe102LeufsTer18 | |
| ENST00000588319.1:n.383del | ||
| ENST00000593067.1:c.-312-97del | ENSP00000467124.1:n.-312-97del | |
| NM_005557.3:c.306del | NP_005548.2:p.Phe102LeufsTer18 | |
| NM_005557.4:c.306del MANE Select | NP_005548.2:p.Phe102LeufsTer18 |