Linked Data
dbSNP Id:
rs1834565223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255837_133255849del , CM000671.2:g.133255837_133255849del | GRCh38 |
| NC_000009.11:g.136131224_136131236del , CM000671.1:g.136131224_136131236del | GRCh37 |
| NC_000009.10:g.135121045_135121057del | NCBI36 |
| NG_006669.1:g.21819_21831del | |
| NG_006669.2:g.24367_24379del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.911_923del | ||
| ENST00000647353.1:n.54-4697_54-4685del | ||
| ENST00000679909.1:c.28+19313_28+19325del | ENSP00000506089.1:n.28+19313_28+19325del | |
| ENST00000453660.3:n.893_905del | ||
| ENST00000538324.2:c.879_891del | ENSP00000483018.1:p.Asn293LysfsTer9 | |
| ENST00000611156.4:c.879_891del | ENSP00000483265.1:p.Asn293LysfsTer9 | |
| NM_020469.2:c.882_894del | NP_065202.2:p.Asn294LysfsTer9 | |
| NM_020469.3:c.882_894del | NP_065202.2:p.Asn294LysfsTer9 |