Linked Data
dbSNP Id:
rs1466680694
gnomAD v2:
10-112333493-CT-C
gnomAD v4:
10-110573735-CT-C
COSMIC:
COSM1638437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573742del , CM000672.2:g.110573742del | GRCh38 |
| NC_000010.10:g.112333500del , CM000672.1:g.112333500del | GRCh37 |
| NC_000010.9:g.112323490del | NCBI36 |
| NG_012217.1:g.11052del , LRG_774:g.11052del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.260del | ||
| ENST00000687823.1:n.45-1594del | ||
| ENST00000689932.1:n.600del | ||
| ENST00000691297.1:n.260del | ||
| ENST00000691527.1:n.217del | ||
| ENST00000692792.1:n.246del | ||
| ENST00000361804.5:c.127del MANE Select | ENSP00000354720.5:p.Tyr43MetfsTer? | |
| ENST00000361804.4:c.127del | ENSP00000354720.4:p.Tyr43MetfsTer? | |
| ENST00000462899.1:n.273del | ||
| NM_005445.3:c.127del , LRG_774t1:c.127del | NP_005436.1:p.Tyr43MetfsTer? | |
| NM_005445.4:c.127del MANE Select | NP_005436.1:p.Tyr43MetfsTer? |