Linked Data
dbSNP Id:
rs1300040566
gnomAD v2:
9-104191810-TG-T
gnomAD v3:
9-101429528-TG-T
gnomAD v4:
9-101429528-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429529del , CM000671.2:g.101429529del | GRCh38 |
| NC_000009.11:g.104191811del , CM000671.1:g.104191811del | GRCh37 |
| NC_000009.10:g.103231632del | NCBI36 |
| NG_012387.1:g.11252del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.324+226del MANE Select | ENSP00000497767.1:n.324+226del | |
| ENST00000648064.1:c.324+226del | ENSP00000497990.1:n.324+226del | |
| ENST00000648758.1:c.324+226del | ENSP00000497731.1:n.324+226del | |
| ENST00000648906.1:n.720del | ||
| ENST00000649902.1:c.324+226del | ENSP00000497216.1:n.324+226del | |
| ENST00000650613.1:n.626del | ||
| ENST00000374855.8:c.324+226del | ENSP00000363988.4:n.324+226del | |
| ENST00000468981.3:n.67+280del | ||
| ENST00000616752.1:c.324+226del | ENSP00000481363.1:n.324+226del | |
| NM_000035.3:c.324+226del | NP_000026.2:n.324+226del | |
| NM_000035.4:c.324+226del MANE Select | NP_000026.2:n.324+226del |