Linked Data
dbSNP Id:
rs1783645813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32337282_32337286del , CM000669.2:g.32337282_32337286del | GRCh38 |
| NC_000007.13:g.32376894_32376898del , CM000669.1:g.32376894_32376898del | GRCh37 |
| NC_000007.12:g.32343419_32343423del | NCBI36 |
| NG_051183.1:g.95941_95945del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+90538_310+90542del | ENSP00000499831.1:n.310+90538_310+90542del | |
| NM_001322059.1:c.310+90538_310+90542del | NP_001308988.1:n.310+90538_310+90542del | |
| NM_001322059.2:c.310+90538_310+90542del | NP_001308988.1:n.310+90538_310+90542del |