Linked Data
dbSNP Id:
rs1408348477
gnomAD v2:
16-75512973-TGCGTAC-T
gnomAD v4:
16-75479075-TGCGTAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479077_75479082del , CM000678.2:g.75479077_75479082del | GRCh38 |
| NC_000016.9:g.75512975_75512980del , CM000678.1:g.75512975_75512980del | GRCh37 |
| NC_000016.8:g.74070476_74070481del | NCBI36 |
| NG_016442.1:g.20948_20953del | |
| NG_016442.2:g.21361_21366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.748_753del MANE Select | ENSP00000328983.4:p.Val250_Arg251del | |
| ENST00000390664.3:c.748_753del | ENSP00000375079.2:p.Val250_Arg251del | |
| ENST00000649341.1:c.748_753del | ENSP00000497635.1:p.Val250_Arg251del | |
| ENST00000649824.1:c.748_753del | ENSP00000496806.1:p.Val250_Arg251del | |
| ENST00000332272.8:c.748_753del | ENSP00000328983.4:p.Val250_Arg251del | |
| ENST00000390664.2:c.748_753del | ENSP00000375079.2:p.Val250_Arg251del | |
| NM_021615.4:c.748_753del | NP_067628.1:p.Val250_Arg251del | |
| XM_005255955.3:c.748_753del | XP_005256012.1:p.Val250_Arg251del | |
| XM_011523085.1:c.748_753del | XP_011521387.1:p.Val250_Arg251del | |
| NM_021615.5:c.748_753del MANE Select | NP_067628.1:p.Val250_Arg251del | |
| XM_005255955.5:c.748_753del | XP_005256012.1:p.Val250_Arg251del | |
| XM_011523085.3:c.748_753del | XP_011521387.1:p.Val250_Arg251del | |
| NR_163480.1:n.733+2736_733+2741del | ||
| NR_163481.1:n.577+2736_577+2741del |