Linked Data
dbSNP Id:
rs1478502320
gnomAD v2:
12-9876035-CAG-C
gnomAD v3:
12-9723439-CAG-C
gnomAD v4:
12-9723439-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9723441_9723442del , CM000674.2:g.9723441_9723442del | GRCh38 |
| NC_000012.11:g.9876037_9876038del , CM000674.1:g.9876037_9876038del | GRCh37 |
| NC_000012.10:g.9767304_9767305del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000702603.1:n.150-628_150-627del | ||
| ENST00000327839.4:n.352-628_352-627del | ||
| ENST00000621400.5:n.263-628_263-627del | ||
| ENST00000327839.3:c.317-628_317-627del | ENSP00000331766.3:n.317-628_317-627del | |
| ENST00000542530.5:c.172-628_172-627del | ||
| ENST00000621400.4:c.317-628_317-627del | ENSP00000483624.1:n.317-628_317-627del | |
| NM_001253750.1:c.317-628_317-627del | NP_001240679.1:n.317-628_317-627del | |
| NM_001267701.1:c.317-628_317-627del | NP_001254630.1:n.317-628_317-627del | |
| NM_172004.3:c.317-628_317-627del | NP_742001.1:n.317-628_317-627del | |
| XM_011520574.1:c.317-628_317-627del | XP_011518876.1:n.317-628_317-627del | |
| XM_011520574.2:c.317-628_317-627del | XP_011518876.1:n.317-628_317-627del | |
| XM_017018885.1:c.149-628_149-627del | XP_016874374.1:n.149-628_149-627del | |
| NR_172485.1:n.349-628_349-627del | ||
| NR_172486.1:n.349-628_349-627del |