Linked Data
dbSNP Id:
rs764941899
ExAC:
14:37132574 CTACTCG / C
gnomAD v2:
14-37132574-CTACTCG-C
gnomAD v4:
14-36663369-CTACTCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663373_36663378del , CM000676.2:g.36663373_36663378del | GRCh38 |
| NC_000014.8:g.37132578_37132583del , CM000676.1:g.37132578_37132583del | GRCh37 |
| NC_000014.7:g.36202329_36202334del | NCBI36 |
| NG_013357.1:g.10806_10811del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.481_486del MANE Select | ENSP00000355245.6:p.Ser161_Tyr162del | |
| ENST00000361487.6:c.481_486del | ENSP00000355245.6:p.Ser161_Tyr162del | |
| ENST00000402703.6:c.481_486del | ENSP00000384817.2:p.Ser161_Tyr162del | |
| ENST00000554201.1:c.-81_-76del | ENSP00000450434.1:n.-81_-76del | |
| NM_006194.3:c.481_486del | NP_006185.1:p.Ser161_Tyr162del | |
| NM_001372076.1:c.481_486del MANE Select | NP_001359005.1:p.Ser161_Tyr162del | |
| NM_006194.4:c.481_486del | NP_006185.1:p.Ser161_Tyr162del |