Linked Data
dbSNP Id:
rs1949320509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954633_86954644del , CM000673.2:g.86954633_86954644del | GRCh38 |
| NC_000011.9:g.86665675_86665686del , CM000673.1:g.86665675_86665686del | GRCh37 |
| NC_000011.8:g.86343323_86343334del | NCBI36 |
| NG_011752.1:g.5749_5760del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.285+158_285+169del MANE Select | ENSP00000434034.1:n.285+158_285+169del | |
| ENST00000531380.1:c.285+158_285+169del | ENSP00000434034.1:n.285+158_285+169del | |
| NM_012193.3:c.285+158_285+169del | NP_036325.2:n.285+158_285+169del | |
| NM_012193.4:c.285+158_285+169del MANE Select | NP_036325.2:n.285+158_285+169del |