Linked Data
dbSNP Id:
rs949039668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541639_98541641del , CM000671.2:g.98541639_98541641del | GRCh38 |
| NC_000009.11:g.101303921_101303923del , CM000671.1:g.101303921_101303923del | GRCh37 |
| NC_000009.10:g.100343742_100343744del | NCBI36 |
| NG_016426.1:g.172559_172561del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.630+234_630+236del MANE Select | ENSP00000259455.2:n.630+234_630+236del | |
| ENST00000637410.1:n.408+234_408+236del | ||
| ENST00000259455.3:c.630+234_630+236del | ENSP00000259455.2:n.630+234_630+236del | |
| ENST00000477471.1:n.417+234_417+236del | ||
| ENST00000634227.1:n.404+234_404+236del | ||
| NM_005458.7:c.630+234_630+236del | NP_005449.5:n.630+234_630+236del | |
| XM_017015331.2:c.336+234_336+236del | XP_016870820.1:n.336+234_336+236del | |
| NM_005458.8:c.630+234_630+236del MANE Select | NP_005449.5:n.630+234_630+236del |