Linked Data
ClinVar Variation Id:
39123
ClinVar RCV Id:
RCV000032396
dbSNP Id:
rs199422308
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1253550_1253726del , CM000667.2:g.1253550_1253726del | GRCh38 |
| NC_000005.9:g.1253665_1253841del , CM000667.1:g.1253665_1253841del | GRCh37 |
| NC_000005.8:g.1306665_1306841del | NCBI36 |
| NG_009265.1:g.46326_46502del , LRG_343:g.46326_46502del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.*6_*182del MANE Select | ENSP00000309572.5:n.*6_*182del | |
| ENST00000656021.1:c.*2951_*3127del | ENSP00000499759.1:n.*2951_*3127del | |
| ENST00000310581.9:c.*6_*182del | ENSP00000309572.5:n.*6_*182del | |
| ENST00000484238.6:n.1847_2023del | ||
| NM_001193376.1:c.*6_*182del | NP_001180305.1:n.*6_*182del | |
| NM_198253.2:c.*6_*182del , LRG_343t1:c.*6_*182del | NP_937983.2:n.*6_*182del | |
| XM_011514104.1:c.*6_*182del | XP_011512406.1:n.*6_*182del | |
| XM_011514105.1:c.*6_*182del | XP_011512407.1:n.*6_*182del | |
| XM_011514106.1:c.*6_*182del | XP_011512408.1:n.*6_*182del | |
| XR_925683.1:n.287-1124_287-948del | ||
| NR_149162.1:n.3092_3268del | ||
| NR_149163.1:n.3056_3232del | ||
| NM_001193376.2:c.*6_*182del | NP_001180305.1:n.*6_*182del | |
| NM_198253.3:c.*6_*182del MANE Select | NP_937983.2:n.*6_*182del | |
| NR_149162.2:n.3113_3289del | ||
| NR_149163.2:n.3077_3253del | ||
| NM_001193376.3:c.*6_*182del | NP_001180305.1:n.*6_*182del | |
| NR_149162.3:n.3113_3289del | ||
| NR_149163.3:n.3077_3253del |