Linked Data
dbSNP Id:
rs3834458
gnomAD v2:
11-61594920-CT-C
gnomAD v3:
11-61827448-CT-C
gnomAD v4:
11-61827448-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61827449del , CM000673.2:g.61827449del | GRCh38 |
| NC_000011.9:g.61594921del , CM000673.1:g.61594921del | GRCh37 |
| NC_000011.8:g.61351497del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257261.10:c.142-10329del (FADS2) | ENSP00000257261.6:n.142-10329del | |
| ENST00000421879.5:c.-49+1752del (FADS1) | ENSP00000416043.1:n.-49+1752del | |
| ENST00000448607.1:c.-49+1001del (FADS1) | ENSP00000391229.1:n.-49+1001del | |
| ENST00000518606.5:c.-160+18del (FADS2) | ENSP00000430054.1:n.-160+18del | |
| ENST00000522056.5:c.115-10329del (FADS2) | ENSP00000429500.1:n.115-10329del | |
| NM_001281501.1:c.142-10329del (FADS2) | NP_001268430.1:n.142-10329del | |
| NM_001281502.1:c.115-10329del (FADS2) | NP_001268431.1:n.115-10329del |