Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226670_5226675delinsATCACT , CM000673.2:g.5226670_5226675delinsATCACT | GRCh38 |
| NC_000011.9:g.5247900_5247905delinsATCACT , CM000673.1:g.5247900_5247905delinsATCACT | GRCh37 |
| NC_000011.8:g.5204476_5204481delinsATCACT | NCBI36 |
| NG_000007.3:g.70941_70946delinsAGTGAT | |
| NG_059281.1:g.5397_5402delinsAGTGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.217_222delinsAGTGAT | ENSP00000494175.1:p.Ser73= | |
| ENST00000335295.4:c.217_222delinsAGTGAT MANE Select | ENSP00000333994.3:p.Ser73= | |
| ENST00000380315.2:c.217_222delinsAGTGAT | ENSP00000369671.2:p.Ser73= | |
| ENST00000475226.1:n.149_154delinsAGTGAT | ||
| ENST00000485743.1:n.268_273delinsAGTGAT | ||
| ENST00000633227.1:c.*33_*38delinsAGTGAT | ENSP00000488004.1:n.*33_*38delinsAGTGAT | |
| NM_000518.4:c.217_222delinsAGTGAT | NP_000509.1:p.Ser73= | |
| NM_000518.5:c.217_222delinsAGTGAT MANE Select | NP_000509.1:p.Ser73= |